Cerebellar Ataxia Information
This web site contains information about Ataxia, Cerebellar Ataxia, Cerebellar Degeneration and Cerebellar Atrophy as well as detailed information about Spino Cerebellar Ataxia Type 2 (SCA2). There is an explanation (appropriate for all types of SCA disease) of SCA cause, diagnosis & testing, disease management and risk of inheritance etc... There are also some very informative sections on genetics and inheritance that, I hope, will be of interest to everybody.
The site also has links to some very good medical web sites that will be very useful for almost any enquiry.
Just click on the title of the chapter (1 to 18) that you wish to read:
*** My own comments/thoughts are usually shown in purple coloured text.
last website update: 25th April 2013
Hi, my name is Martin. I'm from England and I was diagnosed with Spino Cerebellar Ataxia type 2 (SCA2) disease in 2001, when I was 35 years old.
For many years we had known that there was something wrong with my father. Eventually in 1984, before genetic (blood) testing was available, my father had been diagnosed with an un-specified type of 'Cerebellar Degeneration' which was, initially, thought not to be hereditary but, after I recognised similar symptoms in myself [when I was about 23], I realized that this probably was an inherited illness.
Later, after MRI's, interviews and blood tests etc... I was eventually diagnosed with Spino Cerebellar Ataxia type 2 (SCA2 - 41 repeats) in 2001, when I was 35. In 2002, now that genetic (blood) testing was available, my father was also given a blood test. Predictably his blood test also revealed that his 'Cerebellar Degeneration' was actually also the genetic disease Spino Cerebellar Ataxia type 2 (SCA2 - 38 repeats). My father was progressively affected by ataxia and the associated symptoms of his illness until he eventually succumbed to respiratory failure in 2003, bless him...
When I was initially diagnosed I was distraught. I had obviously seen the problems and difficulties that my father was having to deal with but I was unsure; Which symptoms were occurring directly as a result of his SCA2 (i.e. symptoms which I would also eventually have to deal with)? What was causing these symptoms to manifest? Why had I been affected?
These were all questions that I wanted answered. Through my neurology consultant and the internet I tried to find out as much as possible about this disease but unfortunately it seemed very difficult to locate any useful information and there was no one place that I could find all answers that I sought. After a very long time I eventually managed to piece together and make sense of all the various snippets of information that I had collected and I felt that I was at last finally able understand the disease that I had got.
I am now 47 years old and I have been lucky as my symptoms have not progressed too quickly. I have the typical drunken movement/speech/coordination problems that are present in all SCA/Ataxia patients, (which can be really annoying). My MRI scans indicate that the cerebellum part of my brain is slowly being damaged/destroyed (atrophy). My muscles certainly seem to be getting weaker (wasting) but I am still able to get about, mostly without assistance. My memory, intellect and emotions have also been affected by this disease (as discussed in chapter 3 [see the purple text]) but, most importantly, I now feel an acceptance/calmness about my situation. This feeling, I am sure, has been helped by knowing and understanding much more about this disease.
Fine for me, but what about all the other sufferers out there? ......
Rather than waste the knowledge that I had started to accumulate I decided to try to help other people who found themselves in a similar situation to me, by publishing this information on the internet and making it available to everyone (especially sufferers and their associates/family).
I want the information that is on this site to be available to everyone who might find it useful
But I need your help...
Unfortunately this website is not always easy to
find through internet searches so
if you can
think of anyone who might appreciate or value the information that is on this
website please email them and send them the following link to direct them to this website.
Users are also able to email me (via chapter 17 [Just click here]) with any questions/comments and this means that I can improve and develop the information to keep it as understandable and accurate as possible.
Hopefully the information and the links that I have provided on this site will make it a portal where sufferers (and associates) of this disease can access and understand much of the information that is available. I also hope that we can raise the awareness of this little known disease (and of similar inherited diseases).
A big hug and best wishes to all my fellow ataxians... Martin
I am not a doctor or a consultant and, although I am confident about the accuracy of the information on this site, I cannot guarantee it. My knowledge of this disease comes from my own experiences, my fathers’ experiences and the many bits of information that I have come across in my search for data about this disease.
These web pages were originally intended to provide information specifically for Spino Cerebellar Ataxia type 2 (SCA2) however, all variants of the Spino Cerebellar Ataxia diseases are extremely similar in cause and symptom. Unless SCA2 is specifically being discussed, the information provided will be correct for all of the SCA types.
The inheritance and genetic information should also be appropriate for many other types of inherited disease.
N.B. According to the US National Centre for Biotechnical Information OMIM; http://www.ncbi.nlm.nih.gov/omim/183090 [Just click here]
SPINOCEREBELLAR ATAXIA type 2 (SCA2) may also known by these alternative titles;
SPINOCEREBELLAR ATROPHY II
OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE
OLIVOPONTOCEREBELLAR ATROPHY 2 - (This is not the same as OPCA type II)
SPINOCEREBELLAR ATAXIA, CUBAN TYPE
CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM
Ataxia is not a specific disease or a diagnosis, it is just a word used to describe certain, similar, types of symptom. Ataxia will mainly involve clumsiness and loss of coordination. Ataxia will usually affect the whole body. It may affect the fingers and hands, the arms and legs, the body [posture and balance], speech or eye movements - it is a description of physical problems. Ataxia symptoms will usually involve staggered gait (unsteady walking), problems with balance, poor limb control (co-ordination) and slurred speech. Choking problems, irregular eye movements and loss of reflexes may also exist.
The presence of Ataxia symptoms will be indicative of an underlying condition or problem. It is only in investigating/establishing this underlying condition or problem that the presence of these 'ataxia' symptoms can be explained. There are many different things which might cause someone to exhibit 'Ataxia' symptoms. Often Ataxia symptoms are present because there is some sort of dysfunction in the 'Cerebellar' [also called the Cerebellum] area of the brain. The Cerebellum is located at the bottom/rear of the brain.
Sometimes Ataxia symptoms may be temporary [and may even be treatable], but usually they are permanent and they may even be progressive (get worse over time) - it depends on what is causing them. The Ataxia symptom can be caused by ; trauma (usually to the head), excessive and/or prolonged exposure to alcohol or other toxins, vitamin deficiency (vitamin E), stroke, multiple sclerosis, spinal disorders, cerebellar atrophy or other cerebellar dysfunction etc... Sometimes there may be an inheritable or genetic cause for the Ataxia such as 'Spino Cerebellar Ataxia' (SCA) or 'Friedreich's Ataxia' (FA).
‘Cerebellar Ataxia’ or ‘Cerebellar Degeneration/Atrophy’ is a general diagnosis (not a specific diagnosis). After examination and testing by a specialist doctor (usually a neurologist) a patient may be diagnosed with ‘Cerebellar Ataxia’ or ‘Cerebellar Degeneration/Atrophy’ group. Usually for this diagnosis an MRI scan (Magnetic Resonance Image) will be used to show that the cerebellum (part of the brain) has atrophied (degenerated) / is not functioning correctly. The cerebellum is located at the bottom/rear of the brain.
Diagnosis of Cerebellar Ataxia/Degeneration/Atrophy
In patients that are exhibiting symptoms of Ataxia, diagnosis of the disease will be made by a specialist doctor (usually a neurologist).
Initially a physical examination will check for classic symptoms: balance, gait, reflexes, eye co-ordination, hand and tongue co-ordination. The specialist consultant will probably also want to know as much as possible about your family history as some causes can be inherited. Further investigations may provide additional information about the problem or its degree of progression. Other tests may involve assessment of your brain function/memory/intelligence.
This diagram shows MRI scans of two brains. The brain on the left shows atrophy (shrinkage) of the cerebellum. The brain on the right shows a normal cerebellum.
A range of blood samples may also be taken and analysed for various reasons [to find a genetic marker/link or to check for chemical/vitamin deficiencies or abnormalities etc...].
Cerebellar Ataxia simply means the patient is exhibiting Ataxia symptoms as a result of a dysfunction of the cerebellum. Any dysfunction of the cerebellum will cause Ataxia symptoms. The symptoms associated with Cerebellar Ataxia may or may not be permanent/progressive.
Cerebellar Degeneration or Atrophy is often used to describe symptoms that are progressive (i.e. they get worse over time) and they are caused by 'Degeneration' or 'Atrophy' (shrinkage) of the Cerebellum [This is usually apparent on the MRI]. If Degeneration or Atrophy is apparent [has already occurred] then it is likely that this will be a permanent [or even a progressive] problem.
Effect of Cerebellar Damage - Ataxia/Degeneration/Atrophy
The cerebellum has traditionally been thought primarily to coordinate movement (motor function and control, muscle tone, coordination and balance). However it is now recognised that certain ailments that cause Degeneration/Atrophy (shrinkage) of the Cerebellum can also affect cognitive abilities. Memory, judgement, attention, language skills, emotions, anxiety and depression may be affected. Often a Neuro-Psychological Assessment may provide a valuable insight into any of these intellectual or memory problems.
As well as the typical drunken movement/speech/coordination problems that are present in all SCA patients, I find that this disease has affected my mind in all of the ways mentioned above. My mental health (intellect) symptoms mainly involve random memory losses (mainly short term), difficulty with emotions (especially depression/anxiety), panic attacks, difficulty in comprehending and following conversations (especially with recall), inability to make decisions, difficulty with explaining things.
'Multi-tasking' (performing several things at once) is something that many sufferers [including me] find almost impossible to do now. This is not a symptom that I have seen documented anywhere else but it is a symptom that seems to be acknowledged/recognised by many sufferers with a dysfunction of the cerebellum. I find that I must do only one thing at a time or I will forget/muddle what I am doing. E.g. When walking I must concentrate fully on my walking and where I am going. I cannot even risk looking elsewhere because I might fall or stumble. I even find it difficult to have a conversation and play a game at the same time. I find that everything takes me ages - I have to do everything slowly/carefully".
If you have a dysfunction or Degeneration/Atrophy of the cerebellum please email me and let me know if you do (or don't) experience similar problems. Thanks... email@example.com [Just click here].
As discussed earlier, ‘Cerebellar Ataxia’ or ‘Cerebellar Degeneration/Atrophy’ is a general diagnosis (not a specific diagnosis). It only means that the cerebellum part of the brain is not functioning correctly - it does not tell you why. Hopefully the specific cause of the cerebellar dysfunction can be discovered later...
Specific Diagnosis of Cerebellar Degeneration/Ataxia by Genetic Testing
Subsequent to 1996, through the genetic (blood) testing of many patients with progressive symptoms in the ‘Cerebellar Ataxia’ and 'Cerebellar Degeneration' categories, various common abnormal genes were identified. Patients with the same abnormal gene were found to have very similar disease characteristics/symptoms. It is now possible to allocate many patients into various specific Cerebellar Degeneration/Ataxia sub-categories.
This means that usually DNA analysis (from a simple blood test) can specifically identify a genetic problem and often detailed information will already have been collected and be available to let you know more about the illness.
It should be understood that if genetic testing does identify an abnormal gene in a patient then there is likely to be an inheritance risk (to other family/bloodline members [parents, siblings, children]).
Please see the information in "Risk to Other Family Members from SCA diseases" [Just click here] and "Advice about Genetic Testing before the appearance of symptoms" [Just click here] to find out more about genetic testing.
My father was initially diagnosed with 'Cerebellar Degeneration' in 1984, when he was 52, but later, in 2001, when genetic analysis was available (after 1996), my father had a genetic (blood) test which revealed that his 'Cerebellar Degeneration' was actually 'Cerebellar Ataxia type 2' (also called Spino-Cerebellar Ataxia type 2 or SCA2).
It may not be possible to specifically identify the cause of the 'Cerebellar Degeneration/Ataxia' even when the typical characteristic symptoms may be present. If this is the case and the specific cause cannot be identified, the patients' final diagnosis will usually remain as ‘Cerebellar Degeneration’ or ‘Cerebellar Ataxia’.
Dominantly Inherited Ataxia Types (for an explanation of 'dominant' inheritance [Just click here])
Spino Cerebellar Ataxia diseases are the most common form of dominantly inherited ataxias'. At present blood testing is only available to test for SCA types SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA14 and SCA17. My genetic tests revealed that I had a gene abnormality called SCA2. This confirmed that my specific Cerebellar Ataxia was 'Spino Cerebellar Ataxia Type 2'.
Please see "What Type of Spino Cerebellar Ataxia?" for more information [Just click here].
Other causes of Ataxia
Blood tests can also be used to identify other causes of ataxia. E.g. Friedreich's Ataxia (FRDA or FA is a common form of recessively inherited ataxia), ataxia caused by vitamin E deficiency (AVED), ataxia with oculomotor apraxia type 1 (AOA1), DRPLA, , and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
There is often some disparity between neurologists/consultants about when it is appropriate to use this diagnosis, and this can create quite a bit of confusion for patients etc... [E.g. 'Can my SCA be passed onto my children?' when in fact there may be no genetic cause for the problems].
Some neurologists/consultants will use 'Spino Cerebellar Ataxia (SCA)' as a general diagnosis when symptoms only seem to be similar to a SCA disease. Other neurologists/consultants will only give a SCA diagnosis after blood/genetic testing has specifically identified the presence of a known SCA number or type (a specific gene abnormality). This inconsistency in the diagnosis of SCA may cause confusion for patients and for future consultants. To avoid such confusion there needs to be some sort of continuity in the use of this diagnosis.
Personally, I think that it would be less confusing if the diagnosis of ‘Spino Cerebellar Ataxia’ was only used when the gene defect of a recognised number or type of SCA has been specifically identified (through genetic/blood testing).
At present blood testing/analysis can only accurately identify the gene abnormalities responsible for some of the SCA types: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA14 and SCA17. Please see "What Type of Spino Cerebellar Ataxia?" [Just click here].
Only people who have been diagnosed with one of these known SCA types should be given the specific diagnosis of 'Spino Cerebellar Ataxia' and the diagnosis should also always include the corresponding SCA number or type - i.e. SCA type 2.
If a specific SCA type cannot be identified through blood/genetic testing then 'Suspected Spino Cerebellar Ataxia' should be the eventual diagnosis of a doctor/consultant.
However, all 'Spino Cerebellar Ataxia' type diseases have a common set of 'general symptoms'. They all cause Ataxia, slurred speech, loss of reflexes, poor coordination, they cause muscle wasting and they are all usually dominantly inherited. If the actual symptoms of the illness do not (or could not) conform to all of these 'general symptoms' then the diagnosis should not even be 'Suspected Spino Cerebellar Ataxia' it should revert to the general diagnosis of 'Cerebellar Ataxia/Degeneration/Atrophy'.
Spino Cerebellar Ataxia diseases are the most common form of dominantly inherited ataxias. For an explanation of 'dominant' inheritance [Just click here]. The most common forms of SCA disease can usually be identified by DNA analysis (from a simple blood test).
SCA# Abnormal Gene Faulty ## Possible Will Usually Cause Genetic Diagnosis
Location Name Repeat Expansion Atrophy/Shrinkage of the:-
SCA1 6p23 ATXN1 CAG paternal cerebellum, pons and olives known loci & gene defect
SCA2 12q24 ATXN2 CAG paternal cerebellum, pons and olives known loci & gene defect
SCA3 14q24.3-q31 ATXN3 CAG both mild - cerebellum, pons and 4th ventricle known loci & gene defect
SCA4 (16q22.1) unknown unknown unknown approximate loci only
SCA5 (11q13) unknown unknown unknown approximate loci only
SCA6 19p13 CACNA1A CAG no mention cerebellum only known loci & gene defect
SCA7 3p21.1-p12 ATXN7 CAG paternal cerebellum, pons and olives known loci & gene defect
SCA8 13q21 ATXN8(OS) CAG maternal cerebellum, vermis and pons known loci & gene defect
SCA9 not used not used
SCA10 12q13 ATXN10 ATTCT no mention cerebellum… known loci & gene defect
SCA11 (15q14-q21.3)TTBK2? unknown unknown unknown approximate loci only
SCA12 5q31-q33 PPP2R2B CAG no mention outer cerebellum known loci & gene defect
SCA13 (19q13.3-q13.4)KCNC3 unknown unknown unknown approximate loci only
SCA14 19q13.4 PRKCG ----- no mention cerebellum only known loci & gene defect
SCA15 (3p26.1-p25.3) unknown unknown unknown approximate loci only
SCA16 (8q22.1-q24.1) unknown unknown unknown approximate loci only
SCA17 6q27 TBP CAG/CAA paternal cerebellum and pons known loci & gene defect
SCA18 (7q22-q32) unknown unknown unknown approximate loci only
SCA19 (1p21-q21) unknown unknown unknown approximate loci only
SCA20 (11p13-q14?) unknown unknown unknown approximate loci only
SCA21 (7p21.3-p15.1?) unknown unknown unknown approximate loci only
SCA22 ----- ----- ----- ----- unknown
SCA23 ----- ----- ----- ----- unknown
SCA24 ----- ----- ----- ----- unknown
SCA25 (2p21-p13) unknown unknown unknown approximate loci only
SCA26 ----- ----- ----- ----- unknown
SCA27 (13q34) unknown unknown unknown approximate loci only
SCA28 not used not used
SCA29 not used not used
SCA30 not used not used
Key to Colour codes: Blue the specific SCA gene defect is known and can be verified by genetic (blood) testing
Green the exact cause and effects of this SCA type is unclear and it cannot be accurately identified
Purple this SCA number is not yet used
## Possible Expansion All SCA types can be passed on by either parent but, for example, "paternal" means that an
inheritance from the father is more likely to cause an expansion [increase] in the genetic
abnormality [repeat]. Please read end of chapter 9 [green/blue text].
Genetic (blood) testing will only be possible for the SCA types (numbers) shown in blue text.
A test for just one type of SCA will cost about £150 (UK). Multi tests are available and work out cheaper.
See "Medical Dictionary and Internet Links" [Just click here] for further information about specific SCA types.
Although there is still no treatment that has been shown to help or inhibit the progress of any of the specific ‘Spino-Cerebellar Ataxia’ diseases, the identification of the genetic abnormality for many SCA diseases does mean that scientists are one step closer to finding an appropriate treatment.
*** This section deals with the effects/symptoms that are specific to Spino Cerebellar Ataxia Type 2 (SCA2) however, other variants/types of the Spino Cerebellar Ataxia disease are usually very similar in both cause and symptom. If you want to find information that is specific to another type of Spino Cerebellar Ataxia please use the "Medical Dictionary and Internet Links" [Just click here]
(Spino) Cerebellar Ataxia type 2 is an inherited autosomal dominant disease [Just click here to understand what this means].
In SCA2 an abnormal gene causes the body to produce an irregular protein [called Ataxin 2]. This protein has an attraction to certain cells/neurons which are located in the cerebellum area of the brain and it forms damaging deposits on them. Initially these deposits just impede/distort the commands/messages sent by the brain but in time they actually cause the cells/neurons to progressively deteriorate and eventually they will disappear/die (atrophy). So the commands/messages that are relayed through these damaged cells/neurons are progressively impeded/distorted until the resulting impulses are no longer able to provide the correct/controlled instructions that the body requires.
The Resulting Symptoms:
The progressive symptoms of this disease are: Cerebellar Ataxia (in 100% of cases) [in-coordination and unsteadiness due to the brains failure to regulate the body’s posture and to regulate the strength and direction of movements, speech problems etc...– also loss of reflexes (often causing dysphagia [choking]), abnormal eye movements (in 100% of cases), dystonia (in 38% of cases) [involuntary movements and prolonged muscle contraction, resulting in twisted body motion, tremors and abnormal posture] or chorea/tremors (in 38% of cases) [ceaseless rapid involuntary body movements] and dementia (in 37% of cases) [significant loss of intellectual abilities such as memory capacity severe enough to interfere with social or occupational functioning. Criteria for the diagnosis of dementia include impairment of attention, orientation, memory, judgement, language, motor and spatial skills and functions].
As well as the typical drunken movement/speech/coordination problems that are present in all SCA patients, I find that this disease has also affected my mind in all of the ways mentioned above [but to a lesser degree i.e. not 'dementia']. My mental health (intellect) symptoms mainly involve random memory loss (mainly short term [but this does not always seem to be the case]), difficulty with emotions and anxiety (causing panic attacks), difficulty in comprehending and following conversations (especially with recall), inability to make decisions, difficulty with explaining things.
I find that nowadays I often seem to be very tired and I will often need to sleep/rest during the day. When I am feeling tired my symptoms seem to be worse. Often at night I do not seem to sleep very well. Occasionally, when I feel like I need a good nights sleep, I take tablets (UK active ingredient = 'hydroxyzine') to help my sleep. [only occasionally as I understand that sleeping tablets should not be used on a regular basis].
Optically my vision is fine but I feel that my eye movements and my ability to 'focus in' have slowed. I often become unstable when I do not look carefully where I am going or concentrate on what I am doing. I sometimes get muscle cramps (dystonia?) but I have no tremors [chorea]. Sometimes I have periods when I have feelings of, a sort of dizziness/vertigo etc... all of my symptoms seem to be worse during these periods.
Me and my dad both had problems with poor bladder control and often had difficulty with trying to 'hold' it. Medication helped me and, thankfully, I no longer seem to have these problems. (I understand from other sufferers that this can be a common problem although I have found no proper medical reference to this elsewhere).
Often patients may experience feelings of 'dizziness/vertigo'. Muscle weakness, respiratory difficulties and problems with weight loss can also occur in the later stages. Cerebellar Atrophy (shrinkage) is usually [but not always] a feature of SCA2. Please also see "Disease Management" [Just click here].
Initially the symptoms will be minor but as the disease progresses the symptoms will become more evident. In most cases the Ataxia (lack of strength, coordination and balance) will be the most problematic symptom with patients experiencing muscle wasting and eventually becoming immobile and restricted to a wheel chair. Other symptoms will usually remain secondary and not as problematic.
However, in a wheel chair, a persons’ very restricted movement may then be contributory towards the eventual breakdown of the bodies’ normal processes, natural immunity and self healing. [Our bodies are meant to move - Nature designed them that way. Bending & twisting movement and regular muscle contraction do all sorts of things for our systems. If we do not or cannot move these bodies of ours, frequently and regularly in all sorts of ways, then everything can stop working quite as well as it did before]. So, unless we try to exercise regularly, the ailments and problems which we would normally overcome can then become critical. Therefore this disease can often be (albeit indirectly) a terminal disease.
Both 'onset of symptoms' and 'symptom progression' can be subject to variation but often with each inheritance the disease will get worse (See "Genetic Anticipation" [Just click here]). This will normally lead to an earlier 'onset of symptoms' and a more radical progression of symptoms, and may result in an earlier death.
[Just click here], scroll down and read the text coloured green and blue at the bottom for more information about disease severity and the significance of the 'repeat number'.
Apparently the typical (average) 'duration of this disease' (from onset to death) is about 15 years but this can vary considerably. I certainly hope that I will last a lot longer!!!
Principally (Spino) Cerebellar Ataxia is a dominantly inherited disease - please see "Risk to Other family members" [Just click here] although, very rarely, the disease can be (or may appear to be) sporadic. (It may appear with out any obvious family history).
Management of patients with Spino Cerebellar Ataxia Type 2 and most other Degenerative types of Cerebellar Ataxia remains supportive as there is currently no known therapy or medication which can delay or halt the progression of the disease. However there are some things which can be done for sufferers to make their problems easier to deal with. This information/advice is given below:
Although no dietary factors have been shown to affect symptoms, vitamin supplements are recommended and should stop patients from feeling 'run down' or tired. It is often reported that when you are feeling 'run down' or tired that your symptoms will seem to be much worse.
Affected individuals should avoid alcohol and medications known to affect Cerebellar function. http://www.ncbi.nlm.nih.gov/books/NBK1275/ [Just click here and scroll down to "Management"]
Weight control is particularly important because fatness/obesity can exacerbate any difficulties with movement and mobility (especially in association with muscle wasting/weakness). Swimming is a highly recommended activity which is usually possible even with poor co-ordination and muscle strength and will exercise many of the bodies muscle groups, the cardiovascular system and the respiratory system.
Although I haven’t seen any official guidance or suggestion that exercise can help or delay the onset of SCA symptoms I know that many Ataxians believe that exercise does help. I still try to exercise regularly in the hope that staying fitter will help to delay the onset of any ‘muscle wasting’ or other mobility problems for the longest possible time.
As the symptoms of the disease progress patients may find that they become more easily fatigued and tired. Tiredness will often cause the symptoms to seem worse.
As movement/mobility becomes more difficult canes and walkers can be a useful aid. It is important to encourage patients and to provide any assistance or physical aids that might help them to function by themselves. This will help them to maintain a sense of independence and to feel ‘able’. Modifications to the home with such conveniences as grab bars, raised toilet seats and ramps to accommodate motorised chairs may also be helpful.
In my area of the UK the local council have a special 'Disabled Access Team'. They are able to provide/install [and fund] some very useful mobility aids. I.e.. I have disabled rails to assist at all external steps, grab bars in various places [several in the bathroom and by the entrance], extended raise-able support/hold by toilet, bath seat to assist entry into bath. There may be a similar group/team that can help with the provision of aids in your area.
Eventually mobility problems may require the use of a wheelchair and/or scooter.
My father felt that a wheelchair was reliant on an attendant/carer/helper but my father valued his independence and used a small [3~4 wheeled] electric scooter [Wispa by Shop Rider (£850)] to get around inside the house [bungalow] and a larger [4 wheeled] electric scooter [Super Sovereign by Shop Rider (£1795)] to get around outside the house.
Although my father was reluctant to start using a mobility scooter, when he did he found that it made a real difference to the quality of his life. All of a sudden he found that a lot of his 'independence' was restored. He was now 'able' to go out on his own to go around the neighbourhood, down to the shops, along the beach or go to cafes etc... Now that he was happy on his 'lazy' electric scooter we made an extra effort to encourage him to do other forms of exercise (to prolong his movement/mobility for as long as possible).
However, in a wheel chair, a persons’ very restricted movement may then be contributory towards the eventual breakdown of the bodies’ normal processes, natural immunity and self healing. [Our bodies are meant to move - Nature designed them that way. Bending & twisting movement and regular muscle contraction do all sorts of things for our systems. If we do not or cannot move these bodies of ours, frequently and regularly in all sorts of ways, then everything can stop working quite as well as it did before]. So, unless we try to exercise regularly, the ailments and problems which we would normally overcome can then become critical.
Hand and finger dexterity (co-ordination and grip) will become increasingly difficult and tremors may present additional problems. Tremors are sometimes a symptom - Tremor-controlling drugs such as 'Baclofen' may be used but they do not usually work well for Cerebellar tremors.
Hand writing will become increasingly difficult. Using thicker diameter pens etc... may help you to control your writing.
Weighted eating utensils with enlarged handles can help patients at meal times (Illustrated Example = Good Grips® Weighted Utensils). Slip-on shoes or footwear with ‘Velcro’ fixings can be much easier to put on. Buttons will become very difficult for patients to use, but clothing with large zips or ‘Velcro’ fixings can be much easier. (Key rings fitted through the zip pulls also make operation much simpler). Dressing hooks can also be helpful.
Speech therapy and communication devices such as writing pads and computer-based devices may be helpful for patients suffering with dysarthria (speech difficulties).
Travel type mugs with a screw-able lid and open/close aperture can be very helpful to avoid spillages and to make drinking easier.
Sufferers can also experience problems with bladder control. Often patients will realise when they need to urinate but they will have problems 'holding it' until they can get to a toilet. Sometimes a catheter or an external catheter can be helpful.
Dysphagia [choking] can be a significant problem that is caused by bodies gradual loss of reflex actions - There is a flap over the point where the airway to the lungs joins the throat. The opening and closing of this flap is a reflex action. The flap must close correctly to stop food or liquid entering the lungs. Certain foods and thinner liquids can go down the throat quickly. When you have slowed reflexes food or liquid may sometimes enter the airway by accident because the flap doesn't close quickly enough. It will initially cause the emergency reflex of choking but, more significantly, if the food or liquid isn't choked back out, it may be able to enter the lungs where it may cause pneumonia. Early stage choking problems may be helped by putting your chin downwards when you swallow. When the chin is in a down position the muscles of the larynx may help to block access to the windpipe. As choking problems progress the only way to avoid this problem is to drink specially thickened liquids and to avoid certain foods (like crisps and nuts). Sufferers who find that they choke often should consult a 'nutritionist'. A 'nutritionist' should be able to identify the consistency of food/liquid least likely to trigger choking. (Dysphagia can be checked in hospital by swallowing a radioactive drink/food and monitoring its progress through the body by X-ray [A 'Video esophagram']. In severe cases intravenous feeding is necessary (this can be achieved by a ‘gastroscopy’ [peg, rig or jejunostomy] operation which inserts a liquid nutrient feed tube directly into the upper or lower stomach and avoids the risk of food or liquid in the throat).
Sufferers are also likely to encounter problems with anxiety/depression and I have found that the use of simple anti-depressant drugs can be extremely helpful and effective.
Affected individuals should avoid alcohol and medications known to affect Cerebellar function.
Significant SCA2 symptoms experienced by my father
In the later stages of the disease significant weight loss can occur. This is often partly due to problems and worries about dysphagia (difficulty with swallowing/choking on foods and drinks), partly due to difficulties with feeding (use of utensils) and partly due to muscle wasting. This problem can be helped by supplementing the diet with special high nutrient/calorie drinks.
Respiratory difficulties due to loss of breathing strength in the diaphragm muscle [due to muscle wasting] may also become a problem (this can be checked using a Forced Vital Capacity [FVC] test) and will result in the blood having very low oxygen levels (this can be checked using an oxymeter) and very high carbon dioxide levels (this can be checked by blood test). This can be a very dangerous condition and the problem is often exacerbated at night when there is also a risk of sleep apnea (forgetting to breathe). Patient indicators will include difficulty in staying awake during the day and lethargy. To ease this problem the patient will probably need to use a ventilator. A suitable ventilator device can only be selected following extensive investigations/observations at a specialist hospital/department.
My Own Advice About Disease Management
Try to avoid anything that seems to make your symptoms worse – If it makes your symptoms worse it can’t be good for you and it may speed up the progression of your symptoms. Remember that if you have 'done too much' and are feeling run down or tired then your symptoms may seem to be worse.
Take it easy, relax and enjoy – When I get tired, anxious or stressed about stuff I know that my symptoms are worse. Now I don’t rush stuff, I relax more, occasionally I take tablets (UK active ingredient = ‘Citalopram’) for depression and, on occasion, to relieve anxiety/stress or to aide sleep I take (UK active ingredient = 'hydroxyzine') tablets.
Eat healthy and watch your weight – Try not to eat too much, have healthy food with not too much fat/oil or toxins. Each day I take a 'multi vitamin' supplement [200% rda] to stop me feeling ‘run down’. Now I also take a 'mineral' supplement (which includes zinc - see chapter 14, see 6th March 2009 [Just click here]) [also 200% rda?]. It may help!!!
Exercise and stay healthy – Your muscles will eventually start to waste and become weaker so the longer that you can stay healthy, fit and active, the better. Remember: "Use it or lose it". I try to exercise regularly. I mainly do cardio-vascular exercises (which exercise the muscles, heart and lungs etc…). Swimming is a good exercise that does not require good co-ordination or muscle strength. N.B. I find that if I have 'done too much' and I am feeling run down or tired then my symptoms often seem to be worse.
Look after your brain – Most SCA2 symptoms (poor balance, in-coordination, slurred speech etc…) are due to progressive Cerebellar Atrophy (destruction of the brain cells in the cerebellum). I really don’t know what might slow this down but I have been taking fish oil supplements which are extra high in ‘EPA’ [apparently 'DHA' is unimportant]. Extra 'EPA' is supposed to help but I haven’t got a clue if it really does!!! [Addendum Jun 2010] - I have noticed no alteration or change to the progression of my SCA2 symptoms so I have now stopped taking this extra 'EPA'.
The symptoms of my SCA2 disease were definitely progressing more quickly before I changed my lifestyle. At the moment they hardly seem to be progressing at all but this might just be a coincidence. I hope that this information will also be helpful to you…
Help to use a computer, keyboard or mouse.
There may be adjustments that can be made to your computer that will make it easier for you to use it (for emails etc…). Please see this site: http://www.bltt.org/index.htm and select items in the subsection entitled ‘Windows Accessibility’: Mouse improvements, Keyboard improvements etc… (This is for a Windows OS. I am sure that you can find something similar for other OS's).
In the centre (nucleus) of every cell in the human body there are 23 different chromosomes (other animals usually have less). Each of these chromosomes contain two long strings of assorted DNA. Each 'string' is a chain of nucleotides or bases (the most fundamental building blocks of all living things) of which there are four types: Adenine, Thymine, Guanine, and Cytosine (A, T, G, and C). We can write out the DNA string of genetic information in the form of a sequence of letters such as ...GATCAGTACC....
A gene is a part of the total DNA string sequence that will cause a function. i.e. it may define hair colour or cause the production of a specific protein. The combination of the basic gene formats cause different genetic functions and this accounts for our differences from each other and from other living things.
Each chromosome in every cell throughout our body contains two versions or strings of the DNA information.
In this diagram one DNA string will contain ....GTCA.... (inherited from parent 1) and the other DNA string will contain ....CAGT.... (inherited from parent 2)
Genetic diseases include any disorder that is caused by a gene or chromosome abnormality. The common tie among genetic diseases is that victims are born with the conditions or with the susceptibility to develop the conditions in later life. Also the genetic defect can be inherited by offspring. (Please see the next section to find out more about 'method of inheritance')
Genetic abnormalities - Within each chromosome there are certain sequences of DNA which will decode/perform various functions. These segments of DNA are called genes. Most genes perform a useful function in the body but occasionally a rogue/abnormal gene will occur. It is common to find a gene with a repeating sequence of three DNA bases such as .....CAGCAGCAGCAG..... This is called a ‘triplet or tri-nucleotide repeat’ gene. All combinations of triplets (AGG, ACC, etc.) can occur but CGG and CAG are more common than others. These sequences are a normal part of our DNA and may play a variety of regulatory roles. However if there are too many repeats [an expansion] of a particular gene/triplet in a specific locus (part/position) of the DNA sequence this can cause problems.
Illustration showing part of the DNA chain from only one chromosome in a cell (the DNA chain is usually represented by a cross linked spiral shape). Each cell will contain hundreds/thousands of chromosomes.
A neurological diagram of the whole head
Each of the Spino Cerebellar Ataxia (SCA) types are caused by an abnormal gene/DNA repeat in a different, but specific, chromosome position. All of the SCA disease types are normally 'dominant' in inheritance (see next section).
Spino Cerebellar Ataxia (Type 2) or SCA2
In the chromosome called 12q at locus ( position) 24 [ie. 12q24] you would normally expect to find 14-31 CAG repeats. An abnormal gene with too many repeats of the sequence CAG (more than 36) may cause the disease Spino Cerebellar Ataxia type 2. This genetic defect is commonly referred to as SCA2 and the abnormal (expanded) gene produces an irregular protein (called Ataxin 2) which is attracted to, and will eventually destroy, certain parts of the cerebellum. This will cause atrophy (shrinkage) of the cerebellum. This part of the brain is responsible for co-ordination, reflexes and movement as well as some memory and judgement functions.
Spino Cerebellar Ataxia (Type 3) or SCA3
Similarly, in the chromosome called 14q at locus ( position) 32.1 [ie. 14q32.1] too many repeats of the sequence CAG (more than 36) result in the specific disease Spino Cerebellar Ataxia type 3. This genetic defect is commonly referred to as SCA3 and the abnormal genes produce an irregular protein (called Ataxin 3) etc...
Many other genetic diseases have similar origins, for example Huntington Disease can be recognised by too many repeats of the sequence CAG (more than 51) in the chromosome called 4p at locus (position) 16.3 [ie. 4p16.3]. This genetic defect is commonly referred to as HD. This disease damages different parts of the neurological system and results in the symptoms known as Huntington Disease.
NB. The following information is correct for the SCA2 disease and I believe that it may apply to some other SCA types and to similar genetic diseases but please check with your specialist doctor or Neurologist.
If genetic testing does indicate that any of the known disease genes is abnormal then the number of repeats that are presented in the abnormal gene can easily be established. This information may be helpful as it can give a rough idea about the progression/severity of the disease in a patient. There seems to be a rough relationship between the CAG repeat length and the progression/severity of symptoms. Generally this means that the higher the number of repeats found in the abnormal gene, the earlier the onset of disease symptoms might occur and the more severe these symptoms might progress/become.
E.g. 14 to 31 CAG repeats are usually found in the SCA2 genes of unaffected individuals. 36 to 39 CAG repeats may be found in patients who develop mild/moderate symptoms in later life (over 40 years of age). 45 to 64 CAG repeats are often associated with disease onset before 20 years of age, disease progression may be faster and symptoms may be more severe. The worst case that I have read about involves a baby with 255 CAG repeats who had SCA symptoms shortly after birth.
However, SCA 'repeat length' comparisons should not be made with un-related sufferers (i.e. other blood-lines) as different strains of the same disease may be more or less potent. Also some SCA2 blood lines may have a serious problem with a specific SCA2 symptom and other blood lines may not. E.g. ‘Tremors’ - neither my dad nor I suffered with tremors but this symptom affects many patients.. The disease progression and symptom severity in an individual can be best guessed by drawing comparisons from other affected family members with reference to their age of onset and the associated rate of progression. I.e. If you know the SCA2 repeat abnormality value of an affected family member (I.e. your mother, your brother or your uncle) it ‘might’ give you an indication of how severe or progressive your symptoms might be and it might also indicate which symptoms will be most significant. Repeat length comparisons (symptom/progression and age of onset) are approximate only.
Genetic diseases include any disorder that is caused by a gene or chromosome abnormality (Please see the previous section to find out more about 'gene abnormalities'). The common tie among genetic diseases is that victims are born with the conditions or with the susceptibility to develop the conditions in later life. E.g. The genetic defect can be inherited by the offspring.
Method of Inheritance
Every person/parent has got two gene strings or versions of every chromosome. Let us assume that Parent 1 has got gene string versions 'a' and 'b' and Parent 2 has got gene string versions 'c' and 'd'. Through reproduction, the offspring will inherit one of the gene strings from each parent. This would mean that the two gene strings inherited by any offspring could have one of four possible formats:
Parent 1 + Parent 2 ═► Possible child gene formats
ab + cd ═► ac ad bc bd
Some genetic disorders have clearly defined mechanisms of inheritance (E.g.. Spino Cerebellar Ataxias, Huntington's, Parkinson Disease, Friedreich's Ataxia etc...) but others are inherited in a complex manner in which several genes can be involved. Some may even involve multiple genes plus certain environmental factors for the condition to express itself (E.g.. Heart Disease gene plus smoking).
Genetics and Genetic Diseases with Clearly Defined Inheritance Patterns
Continuing on from chapter 8: "Understanding Genes and DNA" [Just click here]
(You are unlikely to understand the following unless you read chapter 8 first).
Dominant Inheritance (diseases such as Huntington's or any SCA type [a type of Cerebellar Ataxia] have a dominant inheritance pattern). Sufferers can show symptoms when only one of the inherited gene strings contains the gene abnormality. This type of inheritance can usually come from the mother or the father (only one needs to be affected).
If you are affected by a 'dominant' disease your offspring will either have the disease gene or they won’t [50% risk of inheritance]. If your offspring don’t have the disease gene then they can’t develop the disease or pass it on to their children. Careful consideration of the risks and implications (for the children) should be given to procreation by affected individuals.
A disease with dominant inheritance is usually quite apparent as the disease symptoms will normally follow a clear line of inheritance and will usually be apparent in each generation. [Because of 'anticipation/expansion' 'Dominant' diseases may only seem to be evident in later generations]. People who do not have the gene defect cannot pass it on to their offspring (even if the defect was present in previous generations or in siblings [brothers or sisters]).
*** Now let us show an abnormal (diseased) gene by using an upper case letter:
Disease Inheritance Risk
Parent 1 + Parent 2 ═► Possible child gene formats Disease Risk
Ab (disease) + cd (OK) ═► Ac (disease) Ad (disease) bc (OK) bd (OK) 50%
This illustration shows an example of dominant inheritance over 4 generations. Blue is used to denote people with the disease causing gene abnormality (1 = defective gene). As discussed above the disease can usually be seen to follow a clear line of inheritance. For example child [IV] 10 inherited the gene defect from parent [III] 14, who inherited the gene defect from grand parent [II] 8, who inherited the gene defect from great-grand parent [I] 1. But because neither parent [II] 6 or 7 had the gene defect it could not be passed onto their children.
Recessive Inheritance (diseases such as Friedreich's Ataxia [FA] another type of Cerebellar Ataxia) - Sufferers will only show symptoms when both gene strings (one from each parent) contain the gene abnormality. People who inherit only one version of the gene defect are called 'carriers'. They will not develop the disease or show any symptoms but they can pass on the gene defect to their offspring.
Please see 'Disease Inheritance Risk' [below] to determine 'Disease Risk' etc... Even if you have the 'disease' (2 genes), if your partner is not a carrier (no FA genes) then your children can’t develop the disease but they may be 'carriers'. [If possible, further testing might be prudent because if your child is a 'carrier' and their partner is also a 'carrier' then there will still be a 25% risk of your grand children inheriting the disease]. Careful consideration of the risks and implications (for the children) should be given to procreation by affected individuals. If you have the Friedreich’s Ataxia 'disease' then your partner can have a simple blood (genetic) test to see if he is an FA carrier (I understand that this test is about 96% accurate).
Because of the nature of recessive diseases they may often appear to be sporadic (random) but there nearly always is a hereditary link (often the parents don't realise that they are 'carriers').
When it comes to family planning this illustrates the importance of genetic testing for the partners of disease sufferers or of suspect/possible 'carriers' to minimise the risk of disease inheritance by the offspring.
*** Now let us show an abnormal (diseased) gene by using an upper case letter:
Disease Inheritance Risk
Parent 1 + Parent 2 ═► Possible child gene formats Disease Risk
Ab (carrier) + Cd (carrier) ═► AC (disease) Ad (carrier) bC (carrier) bd (OK) 25%
AB (disease)+ cd (OK) ═► Ac (carrier) Ad (carrier) Bc (carrier) Bd (carrier) 0%
Ab (carrier) + cd (OK) ═► Ac (carrier) Ad (carrier) bc (OK) bd (OK) 0%
uncommon --- AB (disease) + Cd (carrier) ═► AC (disease) Ad (carrier) BC (disease) Bd (carrier) 50%
NB. - It is uncommon for two consecutive generations to suffer from the same recessive disease as this would require the 'disease' affected parent to choose a partner who also happens to be a carrier of the same disease - this would be a big coincidence. (This coincidence may be smaller if there are any hereditary connections between the two parents).
This illustration shows an example of recessive inheritance over 4 generations. Blue is used to denote people with an abnormal gene. 2 abnormal genes = 'disease', 1 abnormal gene = 'carrier'. All the offspring of a 'disease' (2 abnormal genes) parent will all be 'carriers'. Later, if a 'carrier' parent happens to partner another 'carrier' parent [see red rectangle] then there will be a 25% risk of the disease (2 abnormal genes) affecting the offspring.
Autosomal means that the gene defect can occur in both sexes.
As far as I am aware all SCA types have Autosomal Dominant inheritance and there is a tendency for them to get slightly worse with each inheritance (See "Genetic Anticipation" [Just click here]). However there are also some SCA types which are likely to have a bigger repeat length abnormality with either a maternal or paternal inheritance (through the mother or father). SCA2 is one such example - a paternal inheritance is likely to cause a bigger 'expansion' of the repeat. Please see data under each SCA type in Chapter 5 [Just click here]. For example my fathers SCA2 defect was 38 CAG repeats but my inherited SCA2 defect has expanded to 41 CAG repeats.
Most Spino Cerebellar Ataxia diseases (including SCA2) have a ‘Dominant’ inheritance pattern. As discussed in the previous section ‘Dominant’ means that there is a 50% risk of the disease being passed onto offspring by an affected parent. However if neither parent has the defective gene it cannot be passed on to a child (the disease cannot skip a generation).
In addition, with SCA2 (and some other genetic diseases), it is likely that, if the disease is passed on, the number of triplet repeats in the abnormal gene is likely to get bigger. Hence the disease is likely to have an earlier age of ‘onset’ and the symptoms/progression are likely to be slightly worse. This is commonly called "genetic anticipation" [Just click here]) or an "expansion of the triplet repeat". In SCA2 the risk of expansion is increased when the disease is passed on by a male parent. Please see chapter 5 "## Possible Expansion" [Just click here].
For example my fathers SCA2 defect was 38 CAG repeats but my inherited SCA2 defect has expanded to 41 CAG repeats.
Careful consideration of the risks and implications (for the children) should be given to procreation by affected individuals. With 'dominant diseases' there will be a 2 in 4 or 50% risk of the disease occurring in the offspring of an affected parent. Although this disease may not always be life threatening it most certainly can be life destroying for many sufferers.
Fortunately I realised that I had got a dominantly inherited disease before I had got any children and I decided that I didn’t want to risk passing on this illness to anyone. I’m not suggesting that 'not having children' is the right choice just that I felt that it was the right choice for me.
The Good News - Dominant diseases, like SCA2, can only be passed onto offspring by an affected parent. Therefore if the genetic defect is not present in the child of an affected parent then there will be no risk of subsequent generations inheriting disease. (The defect cannot skip generations).
More Good News re: Friedreich's Ataxia - (an Autosomal recessive cerebellar ataxia). Through DNA testing it is now possible to test for carrier status in the partner of a Friedreich's patient. It should be emphasised to the partner that the test is not perfect as the assay will not detect point mutations. But if no abnormal repeat is detected the chance of conceiving an affected offspring is less than 1 : 10 000.
This advice is only applicable to SCA type illnesses and to similar [dominantly] inherited diseases
NB. In order to test 'at-risk individuals' (before the appearance of symptoms), an affected family member MUST have been tested first to confirm that the disorder in the family is actually a recognised type of Spino Cerebellar Ataxia (SCA) or a similar [dominantly] inherited disease. Please see "What Type of Spino Cerebellar Ataxia?" for more information [Just click here]. DNA techniques are used for the testing of at-risk individuals. This testing is not useful for accurately predicting age of onset, severity, type of symptoms, or rate of progression.
My Personal Advice - At the moment (while there is no effective treatment or medication) I can see no benefit in having a predictive test (except for the situation described in blue text, immediately below).
My Personal Advice Regarding Parenthood - If you are an at-risk child of a disease sufferer [of adult age!!!] - all the time that you are showing no symptoms and cannot ascertain whether or not you have inherited the disease then you are still only 50% at risk. At this point if you decided to have a child, then the risk of your child inheriting the disease would be only 50% of your 50% or a 25% risk. This smaller risk may be a helpful consideration. I know that this methodology could be seen as just “playing with numbers” but it is valid and it might make the ‘Parenthood Decision’ simpler.
In Adults (without children)
Please refer to the NB. [above] in green bold text. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called ‘predictive testing’. At-risk asymptomatic (before the appearance of symptoms) adult family members may seek 'predictive testing' in order to make personal decisions regarding reproduction, financial matters, and career planning. Others may have different motivations including simply "the need to know".
Testing of asymptomatic at-risk adult family members usually involves pre-test interviews in which the motives for requesting the test, the individual's knowledge of Cerebellar ataxia, the possible impact of positive and negative test results, and neurological status are assessed. Those seeking testing should also be counselled and be aware of the possible problems that they (and their children) may encounter if they are diagnosed with an inherited disease. There may be problems with regard to: health, life, and disability insurance coverage (including some loan/mortgage policies), employment and educational discrimination, and changes in social and family interaction.
You should also consider the implications for the at-risk status of other family members.
* - Nowadays many life/health insurance companies, employers and mortgage companies will include a declaration requiring you to advise them 'if there are any known hereditary illnesses in your immediate family'. Failure to disclose a documented illness may invalidate a policy/pension plan.
I suppose that when my final diagnosis ('Spino Cerebellar Ataxia type 2' [SCA2]), an inherited illness, was confirmed and documented, my sister and perhaps her children will officially be in an 'at risk' group and may be discriminated against - Sorry Debbie!!! The possible repercussions of a positive diagnosis are mind blowing...
Individuals with a positive test result need arrangements for long term follow-up and evaluations.
NB. At present there is also growing pressure for Health/Life Insurance Companies etc... to be given access to the medical information about inherited illnesses.
Of course the opposite is also true - if you (or your children) find yourselves unable to get life/health/mortgage insurance etc... because you are in an at risk family/group, then theoretically you may choose to undertake 'predictive testing' in order to verify that you do not have the recognised genetic defect. This only applies when a recognised SCA abnormality has already been identified in your family bloodline.
If you are planning to pay for these DNA tests yourself (not health insurance and not NHS) then it may be possible to keep a positive test result confidential/un-recorded OR make known a negative result.
SCA type diseases are all 'dominantly' inherited so the mutation cannot 'skip' a generation. If the recognised gene defect has not been passed to offspring then all subsequent generations from that offspring should be safe.
In Adults (with children) (or adults planning to have children irrespective of a positive result)
Please read the information in the section above; 'In Adults (without children)'. Obviously, in the future, if your child wants to get 'life/health insurance' etc... and if you, as the parent have already been tested and diagnosed with a dominantly inherited illness then this may/will also have implications for the child. Be aware!
In addition to the previously mentioned direct discrimination that you and your child may suffer from Insurance Companies etc... you should also consider how a positive result might affect/disturb you and your child.
In Children (before the appearance of symptoms)
Children include anyone under 18 years of age (including unborn babies)
Consensus holds that children at risk from typically adult-onset disorders should not have testing in the absence of symptoms. The principle reasons against testing children are that it removes their choice to know or not know this information. In later life a positive test result may cause problems with regards to: health, life, and disability insurance coverage (including some loan/mortgage policies) and employment. It raises the possibility of stigmatisation within the family and in other social settings, and could have serious educational and career implications.
The American College of Human Genetics has produced a very good article entitled "Points to consider: The ethical, legal and psychosocial implications of genetic testing in children and adolescents" http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801355/pdf/ajhg00037-0249.pdf [Just click here]. The article is in pdf file format which requires acrobat reader but this can be freely download from the internet. NB. Give the file time to download.
Please see the dark blue text in the next section to find out about 'Pre-Natal Testing'.
This advice is only applicable to SCA type illnesses and similar [dominantly] inherited diseases
A dominantly inherited disease can only be passed to offspring by an affected parent. If you have started to exhibit similar symptoms AND there is an obvious 'dominant' inheritance pattern present in several members of your family [bloodline], then it is likely/probable that your symptoms are also caused by the same (inherited) disease.
My personal advice - For as long as possible, after symptoms become apparent, try to avoid getting any mention of the disease or symptoms on any personal medical (or other) records [at least until you have been able to secure insurances etc...]. Please be very aware of the possible problems that you (and you children) might encounter once the likelihood of your inherited disease status gets documented. These include problems with: health, life, and disability insurance coverage including some mortgage policies (with ill-health protection) also employment (and retirement benefits). Failure to disclose a documented illness/detail may invalidate a policy/pension plan. It may be possible to inspect the medical notes of a parent to ensure that the heredity issue has not been mentioned.
I was very fortunate (if you can be fortunate with this disease) because when my father was originally diagnosed, the specialist indicated in my fathers medical notes that he did not think that the 'Cerebellar Degeneration' was an inherited illness. When I began to develop similar symptoms I was legitimately able to declare to insurance companies etc... that there were 'no known hereditary illnesses in my immediate family'. I was able to make all my insurance etc... enquiries before I formally discussed the matter with a doctor and anything was officially documented. In fact I did not directly approach my doctor until my symptoms were directly affecting my work. After various investigations and tests I was diagnosed with SCA2 and was immediately given an 'early retirement pension' because I was "no longer able to perform all the duties of my employment.
Testing of patients that are already exhibiting symptoms usually involves pre-test interviews in which the individual's knowledge of cerebellar ataxia, the possible impact of positive and negative test results, and the patients' neurological status are discussed and assessed. Those being tested should also be counselled and be aware of the possible problems that they may encounter with regards to: health, life, and disability insurance coverage (including some mortgage policies), employment and educational discrimination, and changes in social and family interaction.
You should also consider the implications for the at-risk status of other family members. Nowadays many life/health insurance companies, employers and mortgage companies will include a declaration requiring you to advise them 'if there are any known hereditary illnesses in your immediate family'. Failure to disclose a documented hereditary illness may invalidate a policy/pension plan.
I suppose that when my final diagnosis ('Spino Cerebellar Ataxia type 2' [SCA2]), an inherited illness, was confirmed and documented, my sister and perhaps her children will officially be in an 'at risk' group and may be discriminated against - Sorry Debbie!!! The possible repercussions of a positive diagnosis are mind blowing...
Individuals with a positive test result need arrangements for long term follow-up and evaluations.
NB. At present there is also growing pressure for Health/Life Insurance Companies etc... to be given access to the medical information about inherited illnesses.
Family Planning/Parenthood (after the appearance of symptoms)
Careful consideration of the risks and implications (for the children) should be given to procreation by affected individuals. With dominantly inherited diseases there will be a 50% risk of the disease occurring in the offspring of an affected parent.
My Personal Parenthood Decision - For me 50% was too big a risk - I decided that I wouldn’t want to bring a child into this world knowing that with me as a father it would also have a 50% risk of developing the SCA2 disease. I’m not suggesting that 'not having children' is the right choice just that I felt that it was the right choice for me.
Pre-natal Testing (this matter should be discussed with your consultant)
If the abnormal gene has been pinpointed in one of the parents, by genetic (blood test), either by 'Predictive Testing' or as a result of symptom investigations, then it may be possible to undertake pre-natal tests to establish whether or not the abnormality will be present in the baby. The tests use the same DNA based techniques discussed earlier. Chronic Villus Sampling (CVS) can be undertaken between 9 and 11 weeks after conception. Alternatively DNA can be extracted from foetal cells obtained by amniocentesis. However this test may need to be completed 16 to 18 weeks after conception. (English law only permits termination before the fifteenth week although an extension to this period is sometimes possible for ‘special circumstances’).
*** If there is any doubt about the termination of a diseased foetus then pre-natal testing should not be undertaken. Please read the item entitled "In Children (before the appearance of symptoms)" in the previous chapter.
Pre-implantation Genetic Diagnosis (PGD) - November 2006
For some known genetic ataxias/diseases it is now possible to have Pre-implantation Genetic Diagnosis (PGD) on an embryo (fertilised egg/'test tube baby') to ensure that, during development, the foetus will not have the genetic abnormality. IVF (in-vitro fertilisation) techniques are then used to implant the healthy embryo into the mother.
The success rate for finding a healthy 'embryo' is approx 90%. The success rate of the pregnancy is only 60%. So it may take several attempts before a pregnancy is successful. Each time the cost will be approximately $30,000 (US). I don't believe that any insurance companies will cover the cost of this procedure.
I am sorry but the 'Ataxia' symptom can be caused by so many different factors that it would just be too difficult to try and list all of the research, developments and potential treatments that might be relevant to any Ataxia.
Consequently I have had to limit the information given in the "Watch this Space" section (See below) to research and developments which might be relevant/promising to inherited forms of ataxia only :-
Significant progress has already been made in recent years. The actual DNA defect responsible for causing many of these hereditary Ataxias has now been discovered. Please see section 5 ‘What Type of Spino Cerebellar Ataxia?’ [Just click here]. In many cases it has been discovered that these diseases are caused by the unwanted attraction that defectively created proteins have to certain areas of the brain/neurological system and the resultant damage caused by these protein deposits.
Now that the precise cause for many types of inherited ataxia has been identified, research can proceed that is aimed specifically at overcoming this problem. It may be that a method can be developed for either making affected neurological cells less susceptible to adhesion by these protein deposits or alternatively it may be possible to neutralise the attraction(s) of these defective proteins.
These approaches may slow or even halt the progress of the diseases but, at the moment, they are unlikely to be able to restore any of the already destroyed cells. But who knows through cloning/stem cell research or some other technique one day it may even be possible to replace the dead brain cells with new living cells.
Watch this Space... (News of Recent Developments/Research Studies)
Unfortunately there has been very little promising news to report just lately but research studies are ongoing and hopefully there will be something positive to report soon...
New Research Projects Every year - Ataxia Research/Studies supported by NAF
The National Ataxia Foundation [NAF] is very large charity that is based in the USA. Every year [through donations etc...] NAF is able to award funding/support for several promising Ataxia research studies that are undertaken worldwide.
A listing and summaries of the research awards approved each year can be found on the Foundation's web site at http://www.ataxia.org/research/naf-research-2013.aspx. Other studies, which were funded in previous years, can also be seen on this page. Just right click [in the light blue area - top left of screen] on "Research 2012 [etc...]"
6th March 2009 - Holguin Achieves Therapeutic Alternative Against Ataxia
The use of Zinc supplements on patients with the genetic disease Spino Cerebellar Ataxia type 2 (SCA2) may provide neurological benefits.
This is the completion of the first clinical trial for hereditary ataxias in the country and the only of its kind at an international level with the use of Zinc supplements developed by the Centre for Research and Rehabilitation of Hereditary ataxias (CIRAH) in Holguin, which administered the trace element to a group of patients for six months.
Dr Luis Perez Velazquez, director of CIRAH, Holguin reported that Zinc supplements had been shown to improve important clinical, biochemical and neuro-physiological indicators. He went on to say that zinc supplements may alter the evolution of the disease in the mid and long term and may thus improve the quality of life for patients.
This article does not specify the exact nature of these 'Zinc supplements' but perhaps increased Zinc levels may be helpful.
???? - Dr Huda Zoghbi's presentation about SCA
This link is to a video presentation by Dr Huda Zoghbi (Bayler College of Medicine, US) which demonstrates just how much is already known about SCA type diseases [and through research, how close we must be to finding a suitable treatment]. The complete video presentation is 60 minutes long but I found that the information from 6 minutes to 30 minutes was the most interesting.
The video presentation actually discusses SCA1 but all SCA type diseases have very similar causes and symptoms.
11 April 2007 - Big hopes for treatment to help Friedreich's Ataxia (FA) sufferers - HDAC
The class of compounds know as HDAC inhibitors show real promise of increasing significantly the amount of frataxin protein produced by the defective Friedreich's genes. Insufficient frataxin protein levels are the root cause of FA and scientists agree that raising frataxin protein levels in FA patients promises to be tremendously therapeutic.
and read the complete document. Then scroll down to Part II, b, 1. "HDAC..."
and re-read this section. A drug company will take over this molecule to
move it from Dr. Gottesfeldt'
establish whether it truly is part of a FA treatment package to FDA
22 March 2007 - Notes from Dr Susan Perlmans (UCLA Ataxia Centre) Presentation on Current Research/Trials Progress
Current Stem Cell Research
Australia, Canada, China, Europe, Finland, Israel, Japan, Singapore and United Kingdom are all involved in stem cell research. Please see http://stemcells.nih.gov/research/intlresearch.asp [Just click here] for more details.
Current Drug Trials
Drugs to increase Frataxin production - Freidreichs Ataxia
Drugs to block the effect of defective genes - RNA - SCA Diseases
There are already many drugs that can offer therapeutic help for many of the symptoms associated with Ataxia etc...
Currently Researching/Testing the following Disease Modifying Drugs
Friedreich's Ataxia Co-enzyme Q10
Sporadic Ataxias Gluten free diet
Immune modifying RX
SCA's Creatine - Protects brain but doesn't stop Ataxia (Animal Study Only)
Tetra hydrobiopterin - Showed benefits for SCA3
Branch Chained Amino Acids - Showed benefits (especially for SCA6)
Magnetic Stimulation (TMS) of the Cerebellum - Some Ataxia improvements
There are already several disease modifying treatments which are being tested for Huntington Disease (HD), also a CAG triplet repeat disease, and these treatments may also have applications for the treatment of SCA.
12 December 2006 - More Si RNA Developments - Peptoid Re-agents
Si RNA is an up-and-coming gene silencing technology for switching off genes in the body and is likely to become an important tool to treat malfunctioning genes in the human body.
However, a major problem with RNA silencing has been the potential for “off-target” effects, where a gene with a similar sequence to the target gene has been repressed. Now US researchers have developed a new delivery vehicle for Si RNA that could accelerate its use in drug development.
Although a lot more basic research is needed to understand the scope of this "off target" problem the development of these peptoid reagents is a step closer.
For the full article please see: http://www.in-pharmatechnologist.com/news/ng.asp?n=72721-new-york-university [Just click here]
27 March 2006 - Fruit Flies Offer New Hope
Extract - "Polyglutamine diseases (conditions caused by stretches of DNA in a gene that contain the same trinucleotide sequence repeated many times) can cause uncontrollable movements, loss of cognitive functions and emotional disturbances — may soon be cured thanks to the help of fruit flies and a Hong Kong biochemist Dr Edwin Chan Ho-yin.
The most common versions include Huntington's Disease, Kennedy's Disease and various types of Spino Cerebellar Ataxia. There may be no cure, but Chinese University of Hong Kong biochemist Edwin Chan Ho-yin is close to finding a way to stop the disease progressing, with the help of a genus of fruit fly called Drosophila.
Chan, who began by focusing on Huntington's Disease, explained that the gene responsible for the disease was caused by an expansion of the CAG DNA sequence. Using fruit flies, Chan discovered a special protein that could help fix the sequence. Preliminary tests have been promising, but final results will not be in until the end of June."
For the full article please see: http://news.xinhuanet.com/english/2006-03/27/content_4349643.htm [Just click here]
12 February 2005 - Compound Spurs Brain Rebuilding from Stem Cells
Extract - "A compound that spurs stem cells to become brain cells may hasten adult stem cell treatments for neurological diseases such as Alzheimer's. The compound, bromodeoxyuridine, naturally becomes part of DNA. It has been discovered to make adult human stem cells more likely to become brain cells when they're implanted in adult rat brains.
By using a patient's own stem cells instead of embryonic stem cells, we're able to avoid the ethical concerns many people have about stem cell research," says Sugaya. "We also don't have to worry about the immune system rejecting the new cells."
The researchers are also testing the use of bromodeoxyuridine to make stem cells from adult bone marrow into other types of cells, such as heart muscle cells.
While more cell culture and animal tests are needed before human trials, Sugaya has co-founded a company called NewNeural to develop and commercialize products that will improve the brain's ability to repair and replace damaged brain cells.
20 October 2004 - Sirna Therapeutics to start development of Si RNA for the treatment of neuro-degenerative diseases
Extract - "Dr. Beverly Davidson (University of Iowa Research Foundation), recently demonstrated that a short interfering RNA (siRNA) efficiently inhibited gene expression in an animal model of a disease mimicking spino cerebellar ataxia 1 (SCA1), a member of a class of inherited human neurodegenerative diseases that includes Huntington's Disease. The study appeared in the August issue of Nature Medicine (Volume 10, pp 816, August 2004). Sirna Therapeutics is looking to develop the use of Si RNA technology in the field of neurological diseases, including those relating to SCA1, Huntington's, Parkinson's and Alzheimer's Diseases."
For the full article please see: http://www.prnewswire.com... [Just click here]
9 May 2004 - Brain Stem Cells from Bone Marrow
Extract - "New hope for people with Parkinson's disease, Alzheimer's disease, stroke and other neurodegenerative diseases may ultimately come from their own bodies. Latest research by neurologist Alexander Storch shows that cells taken from adult human bone marrow can be converted into brain stem cells that meet the criteria for transplantation into the brain.
The use of the cells from adult human bone marrow, called stromal cells, eliminates the ethical and logistical issues that arise with the use of cells from foetal tissue. And the use of cells from bone marrow that would be converted and transplanted into the same person's brain eliminates ethical issues and immune-system problems that can arise when the body rejects cells from an outside source.
Animal studies are underway at the moment but more research is needed before the converted cells can be tested in humans."
24 June 2003 - RNA news by Email to me
Extract - "The good news in terms of 'gene deactivation' is the emerging power of so-called Si RNA (small interfering RNA that can act as a specific gene silencer). Therefore it may be possible to effectively deactivate the abnormal genes. This would hopefully stop the production of the defective proteins which damage the brain.This may actually halt the disease.
The other good news in terms of reproduction and inheritance are the powerful lentivioral recombinant vectors, which have the ability to block some gene transfers. Unfortunately these still need to be tested in humans.
Therefore, there are some tools to work on, but the research will still be long and I am afraid that it may take several years to achieve substantial results."
14 May 2003 - New hope through Stem Cell Research
Extract - "Worldwide attention is presently focused on the potential use of 'Stem Cells' as an alternative source of tissue for cell transplantation and brain repair. 'Stem Cells' are un-formed cellular material that can be manipulated/engineered to develop into any type of tissue or cellular structure e.g.. nerve cells, muscle tissue, heart cells or brain cells.
Grafts of embryonic stem cells have been shown to partially restore some neurochemical deficits and to reduce behavioural and locomotor impairment in animal models of these diseases. In humans, some patients with Parkinson's disease have shown remarkable improvements following human stem cell neural transplants.
The news that human stem cells can be obtained from aborted human foetuses or from spare embryos from in-vitro fertilization procedures has been met with both enthusiasm and opposition. The scarcity of this material is compounded by practical issues such as viability, contamination and heterogeneity of tissue as well as overwhelming ethical and moral concerns."
Questions in red Answers in purple
L:) My mom of 78 years was told she had cerebellum ataxia about 13 years ago and not much was known! or people didn’t want to talk about it, but mom was only really told about 6 months ago after much fussing left right and centre for her to have some tests. I don’t know but since then she seems to have got worse, falling over and breaking her thumb hasn’t helped , we joke with her that when her speech goes that she needs to take more water with it ( gin ) and she laughs , she does her exercises when she can, she keeps her mind and out look very positive, she has to have a wheel chair when she goes out , but now that's not so often as she gets embarrassed, she says her biggest problem now is her balance and her coordination, she cannot read, or move around at all for fear of falling. I would like to take her to see someone who knows about her problem, (as the docs she has seen only know a small amount). I don’t really know where to go or what the field of her problem comes under, I think it might be under neurological consultant , any ideas would be of help.
Cerebellar [or Cerebellum] Ataxia [symptoms and diagnosis] is described in chapter 3 of my web site [Just click here].
I understand that the cause of most Cerebellar Ataxias is unknown, although sometimes a cause can be established. Occasionally the cause may be inheritable [genetic] but it wasn’t until after 1996 that genetic/blood testing started to become available. Often an inheritance pattern will be apparent before testing is undertaken.
I understand that your mother was originally diagnosed approximately 13 years ago. Today, a lot more is known about what might cause Cerebellar Ataxia so it might be helpful to get a revised opinion from a proper neurological consultant or specialist [your GP should be able to give your mother a referral]. I don’t know about specialist hospitals near to the “Black Country” [UK?] but my testing/diagnosis [in 2001] was done by a specialist/consultant Dr M.G.Hanna at the National Hospital for Neurology and Neurosurgery in London. I hope that this information is helpful.
However, even if a specialist/consultant is able to establish a cause for your mothers Ataxia it is unlikely [at the moment] that there will be any medication or treatment that can/will treat her condition. The symptoms can usually only be “helped/managed”. Please refer to chapter 7 of my web site [Just click here].
K [i]:) My dad has degenerative cerebellum, or at least that's what we've always called it. I am 36, I do not have any symptoms of this disease and neither does my brother. I am in the process of having my children tested. My dad was diagnosed in 1987, but back then there was little information about it and so my dad, I don't know, I don't know how to explain it, but he sort of just, kind of excepted it and so life went on, and over the years I've watched my father deteriorate.
I believe that there is only a risk of inheritance with types of “Cerebellar Degeneration” that have an obvious inheritance pattern [from previous generations], or unless a genetic [blood] test has diagnosed the specific type of “Cerebellar Degeneration” [usually this will be a type of Spino Cerebellar Ataxia (number) – SCA#].
You have said that your dad was diagnosed in 1987 but genetic [blood] testing, which could identify an inheritable disease type, didn’t become available until after 1996. Unless your fathers’ blood has been tested and he has been given a specific [dominantly inherited] diagnosis then I am sure that your children cannot be tested. Please read the green text at the start of chapter 12 [Just click here].
In addition I think that it is very important for you [and your husband] to read the last section of chapter 12 (titled “In Children…;) [Just click here and scroll down] and to properly consult with your doctor [or a genetic counsellor] before embarking on any testing of your children [if they are under 18].
K [ii]:) I'm confused, I was 12 years old when my dad started to "act funny", and I know it wasn't too long after that, that he in fact was diagnosed. Maybe there wasn't a name for it yet but I've always remembered it as cerrebellum degenerite. That's what we've always called it, so It's never really come up until now about having my children tested for the gene, isn't it a simple blood test? I really don't know, so any feedback you can give me is sooooo helpful, I'm not close with my dad so........ My Drs' know about this and they've never expressed concern about myself getting tested.
Please read the second paragraph of chapter 1 [Just click here]. In the past very little was known about this type of illness but since 1996 geneticists have been able to identify specific gene defects, from a simple blood sample, which will cause Cerebellar Ataxia/Degeneration. Specialists have also been able to deduce that often, when it has been possible to identify a specific gene defect, that the disease/effect may be inherited/passed to offspring in some way.
Understanding of genetics has come on in leaps and bounds in recent years and consequently various protocols [like the testing of children etc…] have been established to protect the vulnerable. If you have previously only discussed, with your doctors, about you being tested [an adult] then this may be why they didn’t warn you about “childhood testing”. Please read the green text at the start of chapter 12 [Just click here]. But to be honest, as a genetic [inheritable] cause for your dads’ “Cerebellar Degeneration” has not even been established yet I think that it is unnecessary for you to even consider inheritance issues at this time.
Not only has knowledge of genetics come on in leaps and bounds but other medical knowledge has also greatly improved in recent years. There are now many other things which doctors can test for [and treat?] which may also cause “Ataxia” symptoms. Please read chapter 2 of my website [Just click here].
It is unfortunate that you are not close to your dad. But he might also feel that it is worth re-addressing his “Cerebellar Degeneration” problem again.
All of this information is provided on my website but unfortunately, because there is so much information, it is sometimes very hard to find/understand.
J:) I have a friend whose mother has Spino Cerebellar Ataxia (SCA). She lives in China. She doesn't know if she has it or not, the doctors in China said that she had to wait till she has some symptoms. However, it seems from your webpage that predictive test can be done and show if she has it or not. So my question is, about how much is the predictive test? If she can afford that, is it possible to arrange a test for her or do you have any suggestions?
Unfortunately she doesn't know what is the specific SCA type/diagnosis of her mother's. I assume that the doctor made the conclusion that her mother had SCA according to her symptoms and her family history. Her grandpa had it when he was in his 50s, her mother had it when she was in her 40s, her cousin had it when he was in his 30s. The main symptoms are the patients will lose control of their body but their thoughts are still clear. The symptoms comes earlier and get severer in every next generation if they inherit it.
She is married, 25 years old. She told me that she wanted a child so much but she couldn't, she has to wait till she is 35 or older and see if she has it because she doesn't want to pass the illness to her child.
I saw it on your webpage that simple DNA (blood) testing can specifically identify a genetic problem. Does that mean if they do a genetic test of her mother's blood sample then they can find which type her mother has? I understand that blood tests are only available to several types, then if they can identify that her mother is one of these types or not. And then if her mother is identified to be of one of the types that tests are available, then a genetic test can be done on her blood sample. Am I right?
I also have concern about the cost as they are not rich, and as you may know, wages in China are really low compared to England or north America, which means if they are not rich in China, then they are really poor in England.
You are quite right, the only accurate standard SCA diagnosis test available is a DNA (blood test) to identify the specific gene defect which is causing the SCA symptoms. However, whilst the SCA causing genetic defect is known for many of the common SCA types there are still several SCA types of unknown cause.
Normally I would have expected the doctors/specialists to have arranged for DNA (blood tests) to try and establish the exact SCA type which is causing these symptoms but I really have no idea how the medical services work in China. Has your friends’ mother had any DNA (blood) tests? Before putting her hand in her own pocket perhaps she could ask about free DNA testing for her mum? Unfortunately I also have no idea about the cost or availability of DNA (blood) testing in China. My only suggestion would be to search the local internet for costs and availability. Example: Try searching for “cost of SCA gene test laboratory”.
With DNA testing
Although the attached diagram shows that SCA3 is common in China, for initial diagnosis it is advisable to have a ‘combination test’ which will test for several of the common SCA types. The combination test for SCA 1,2,3,6 and 7 is a fairly common SCA diagnosis test that is performed by many testing laboratories but larger (more expensive) combination tests are available (they also include testing for SCA 8,10,14,17,FRDA,APTX and DRPLA).
For example: University of Sydney will test for SCA 1,2,3,6 and 7 for 530 Australian dollars. [Link broken].
For initial diagnosis your friends’ mum should have a combination SCA test and will need to be positively diagnosed for a known SCA disease type. Assuming that the families’ inherited disease is recognised, your friend (and any other ‘at risk’ members of her family group) could then be tested for just that specific SCA type. For example: University of Sydney will charge only 265 Australian Dollars for a specific SCA disease test. With this method, even if your friend (or any other family member) has inherited a recognised SCA type, she may still be able to have prenatal testing to ensure that a child will be SCA free.
Please see my web site "What Type of Spino Cerebellar Ataxia?" [Just click here]
Without DNA testing
With some SCA type diseases there may be an increase in the gene abnormality (expansion of the triplet repeat) during inheritance so the age of onset for symptoms may get earlier (and from what you say this seems to have happened previously in your friends’ family) but this does not always happen.
There will be a 50% risk that your friend will have inherited the SCA disease from birth. If her mother had shown symptoms at 30 then waiting to see if she has developed any symptoms by the age of 35 may have been advantageous (although not a definite indicator). However, as your friends’ mother didn’t show symptoms until her forties, it may just be that at 35 she is still too young to show any symptoms. Without DNA testing I think that you can only ‘hope’ that if she has not presented with any of the symptoms by the age of 35 then there may be less of a risk that she will have inherited the disease.
If DNA testing is not possible or is unsuccessful: (I must emphasize that this is my own personal opinion)
When a person has developed symptoms of the disease or has been diagnosed with SCA, like me, then you know that you have the disease. This means that any child would then be 50% at risk of inheritance. For me this was too big a risk - My Personal Parenthood Decision - I decided that I wouldn’t want to bring a child into this world knowing that with me as a father it would also have a 50% risk of developing SCA2.
However, all the time that your friend is showing no symptoms and cannot ascertain whether or not she has inherited the genetic defect causing this disease then she is still only 50% at risk. At this moment in time, if she decided to have a child, then the risk of the child inheriting the disease would be only 50% of her 50% or a 25% risk. This smaller risk may be acceptable. I know that this methodology could be seen as just “playing with numbers” but it is valid and it might make the ‘Parenthood Decision’ simpler.
Of course, at the end of the day it has to be your friends’ decision. She may still prefer to wait until she is 35 years old before making any parenthood decisions.
A very difficult decision but I hope that this information has helped. If you or your friend have any further questions or would just like to talk please feel free to contact me anytime.
I:) They thought I had ms at first then they told me it was ataxia. I have four brothers one sister one daughter one niece and a nephew with symptoms. They diagnosed us all as having Spino Cerebellar Ataxia in 1989 but they still don't know what gene it is. I am worried about my grand children coming out with it.
My symptoms are very bad balance and coordination. My speech has also worsened. I have a lot of numbness and pins and needles. I do not need a wheelchair at present it seems to take forever to walk fifty yards. I do have a job to swallow my food my husband Ian cuts all my food up and he helps in a lot of other ways to. He is my carer. I do not like people staring at me thinking I am drunk. I cannot write letters anymore. I cant hold a pen without getting spasms in my fingers. I suffer from short term memory also bad eyesight. As you can tell I am not used to typing.
I had a MRI scan in 1989. The blood tests that I have had are sca1, 2, 3, 6 and 7. They were all negative. DRPLA gene analysis spg4 was also negative. My father died of a heart attack when he was 57. My mum is alive and well at the age of 75.
I’m a little confused… I always understood that the only way that a doctor/neurologist could give someone a diagnosis of Spino Cerebellar Ataxia (SCA) was if, through genetic (blood) testing, a recognised SCA gene defect had been found. If this was the case then your diagnosis would be SCA type # (a number). Not all SCA types have been identified/associated with a specific gene defect and until a recognised SCA gene defect has been identified I am sure that the diagnosis should only be ‘suspected Spino Cerebellar Ataxia’. Incidentally, you have already had genetic (blood) tests for the 5 most common types of SCA disease.
You have also mentioned that in 1989 you had an MRI scan (of your whole body or just the brain?). 1. Did your doctor/neurologist explain to you what the MRI had shown? All recognisable SCA type diseases cause ‘atrophy’ of the cerebellum [Please click here and scroll down to the diagram]. If the MRI did show atrophy of the cerebellum then, as I understand it, your diagnosis should have been ‘Cerebellar Atrophy/Degeneration/Ataxia (suspected Spino Cerebellar Ataxia)’. If the MRI did not show any Cerebellar atrophy then your problem is either, not causing atrophy/damage to the cerebellum or in 1989 it was still in the early stages and had not caused any atrophy/damage at that time. If no atrophy was shown on your original MRI then, 17 years later, it might be helpful to have another scan done now.
Please feel free to show my comments etc… to your doctor/neurologist. Hopefully he/she will be able to properly explain your diagnosis. (I would also be interested to find out what is said).
I have had a look through the symptoms that you have described and they certainly seem to be consistent with SCA type diseases. 2. Re your swallowing problems - When eating/swallowing does the food/drink often cause you to choke (when it goes down the wrong way)? Bad eyesight is not usually caused by SCA. For vision problems, the ‘abnormal eye movements’ symptom that I have mentioned in section 4 of my web site (which a doctor tests by moving an object from one side to the other while you try to follow it using your eyes only) refers to a slightly staggered (not smooth) eye movement.
Regarding inheritance issues - All types of the ‘Spino Cerebellar Ataxia’ disease usually have ‘dominant’ inheritance [Please click here] and a line of inheritance is usually quite easy to see. 3. Does your family history of symptom inheritance hold true to this ‘dominant’ pattern?
With SCA2 (and some other SCA types), it is likely that, if the disease is passed on, then the number of triplet repeats in the abnormal gene will expand. Hence the disease is likely to have an earlier age of ‘onset’ and the symptoms/progression are likely to be worse for the future generations. Your father might have started to show symptoms at age 60 but as he died at 57 no one ever saw them. The SCA defect could have expanded when it was passed on to you which is possibly why you showed symptoms at a much earlier age…
H:) My mother was diagnosed with SCA 2 shortly before she died in 1999. They had for years referred to her disease as Cerebella Degeneration. In 2001 I was tested for the disease and was told I do not have it. My brothers were tested as well and neither one of us tested positive. For me joy did not come immediately following the results. I still worry I may have the disease and constantly question my mother’s results (even though the symptoms she had are identical to SCA2). Is it possible to get a false negative? I do not have any symptoms. I do have some odd knee tightening and not sure if that’s related to something else or my mind controlling what I feel due to the uncertainty. I no longer have a copy of my results and wonder if they keep record of that at the office and for how long. Also, do you know if I’m able to locate my mother’s results and if so how?
Again, thank you for your very informative website and good luck to you. Thanks so much for getting the word and information out. I really do appreciate you taking the initiative you are rather that sitting back and doing nothing.
I appreciate your concern but I am sure that your genetic (blood) test for SCA2 will be definite and constant. Since 1996 it has been possible to positively identify the specific SCA2 gene abnormalities from a simple blood sample.
Some 3 years after my SCA2 genetic test I wanted to get the actual value of the defective CAG repeat from my test and my neurology consultant was able to obtain this information for me. See my website for an explanation of CAG repeats [Just click here]. Hopefully yours will be able to obtain your test information as well.
Your SCA2 genetic (blood) test will have detected 2 SCA2 CAG repeat values (one inherited from your mum and one inherited from your dad) and hopefully you will be able to obtain both of these values to assure yourself that you definitely don’t have the disease defect (I am sure that the analysts would not get such a significant detail wrong). Rest assured that these SCA2 CAG repeat readings can never change. Please see my website "Outlook for the Future" [Just click here].
I do hope that you are able to get the test information that you seek and I hope that these words will help ease your anxiety…
If you can think of anyone else who might find the information on my website useful I would be grateful if you could give them my web address.
G:) I was diagnosed with SCA2 4 years ago and Charcot Marie Tooth Disease 13 years ago. I am 42 now and 10 weeks ago had a Femoral Osteopathy on my right leg. I am finding it hard to get my muscle strength back in my leg and am also getting severe cramp in my left leg and muscle weakness in the left leg too. Is this likely to be because of the neurological problems and am I likely to get all my usage back as my right knee feels dead thank you.
SCA2 can cause cramps (dystonia) and muscle wasting (I assume that this is through atrophy or shrinkage of the muscle) so I would think that after an operation, such as yours, you might have to work harder to get proper use back but I don’t think that you should ever just accept a difficulty as a ‘recognised’ symptom of SCA2.
When communicating with other SCA# sufferers I have often heard the phrase ‘Use it or lose it’. Keep this in mind! I would advise you to never give up, just keep exercising as much as possible. Hopefully one day soon, both of your legs will be working normally again.
F:) My Neurologist has told me that I have got Cerebellar Degeneration.
I suffer with staggering, unsteadiness, flickering eyesight, extreme exhaustion, mood swings, stiff leg muscles, cramps, stiff knees and throbbing head, difficulty in concentrating, short term memory loss and difficulty with emotions as described in your pages.
I used the web search to find out more and then discovered the word ataxia. I had never heard of this word before.
I am very anxious to learn more of my condition and to communicate with other sufferers but as my neurologist did not mention ataxia, I cannot accept that I have cerebellar ataxia. My mind rejects the idea that I might suffer the degeneration described by other sufferers.
My neurologist told me that my condition will not progress rapidly and there is no treatment available so just to continue with a healthy lifestyle and come back to see him in six months time.
Ataxia' is a symptom, not a specific disease or diagnosis. Ataxia means clumsiness, or loss of coordination. Ataxia may affect the fingers and hands, the arms or legs, the body, speech or eye movements - it is a description of physical problems. The symptom of Ataxia may be caused by many different things.
Like you, my father was initially diagnosed with Cerebellar Degeneration.
'Cerebellar Degeneration' may
be causing the additional symptoms of 'difficulty in concentrating, short
term memory loss and difficulty with emotions' that you have described but
these are not Ataxia symptoms. If your neurologist is able to make a better
or 'specific' diagnosis (by genetic [blood] testing) then he might be able
to advise you which of these symptoms might be caused by your specific type
of Cerebellar Degeneration.
InterNAF is the
international federation of Ataxia sufferers. They are a discussion/Q&A
group for all sufferers of Ataxia (irrespective of the cause). You might
find this group helpful. See http://groups.yahoo.com/group/internaf
[Just click here] and
register with the group. Please do not be too
concerned by what you have read on my web site - my web site mainly contains
information that is relevant to 'Spino-Cerebellar Ataxia' type diseases
and similar genetic diseases (i.e.. Dominant Ataxia's). There could be many
different causes for your form of 'Cerebellar Degeneration' and until your
neurologist is able to confirm the actual cause it may be best not to read
too much into things. (Although a little knowledge is always helpful).
InterNAF is the international federation of Ataxia sufferers. They are a discussion/Q&A group for all sufferers of Ataxia (irrespective of the cause). You might find this group helpful. See http://groups.yahoo.com/group/internaf [Just click here] and register with the group.
Please do not be too concerned by what you have read on my web site - my web site mainly contains information that is relevant to 'Spino-Cerebellar Ataxia' type diseases and similar genetic diseases (i.e.. Dominant Ataxia's). There could be many different causes for your form of 'Cerebellar Degeneration' and until your neurologist is able to confirm the actual cause it may be best not to read too much into things. (Although a little knowledge is always helpful).
E:) I have SCA2. You don't discuss tremors a great deal - this symptom seems to be big problem for me. Also, my handwriting has become totally illegible. This also seems to be a common symptom with other ataxia sufferers. Awesome web site!!
I'm glad you liked the web site. There is an awful lot of information to take in (some of which is quite detailed). I have tried to make the information as understandable as possible but if you find it at all confusing or you have any further questions please just email me - I will try to incorporate your comments into my next web site update.
Regarding your comments about the significance of tremors (dystonia) in your case of SCA2. On my web site, in the section you will see that dystonia is only a problem in about 38% of SCA2 sufferers. I am fortunate because I have not developed tremors.
Although our SCA2 disease is always caused by the same gene abnormality, the inherited symptoms of the disease do vary from family to family. Usually the SCA2 disease symptoms remain the same/similar throughout the line of inheritance (although the degrees of these symptoms may vary). For example the SCA2 symptoms of my family line are only: Cerebellar Ataxia, Dysphagia, Speech problems, Abnormal eye movements and some aspects of Dementia.
Cerebellar Ataxia is a symptom of 100% of SCA2 sufferers ( to varying degrees) and like you I have a lot of difficulty with writing (coordination and regulating the strength/movement of my hands and fingers). I tend to use my computer for all writing, even small notes. This can be quite time consuming but at least people can understand what I have written.
D:) I have been diagnosed with Ataxia. I think that I may have SCA2. How can I tell ?
All strains of Spino Cerebellar Ataxia (SCA) are inherited. It is very unusual for the disease to be 'sporadic'. When any strain of Spino Cerebellar Ataxia is present it can usually be recognised by ataxia etc... in other family members/parents etc... . If 'Ataxia' hasn't presented in your family it probably won't be caused by SCA.
The genetic defect that causes SCA2 Spino Cerebellar Ataxia has actually been identified and diagnosis can be confirmed 100% by a simple genetic (blood) test. If analysis of your blood shows that you have a defect in your SCA2 gene then you have got SCA2 if it doesn't then you haven't.
Several SCA types (which have similar symptoms) can now be definitively diagnosed with a simple blood test (SCA1, 2, 3, 4, 5, 6, 7, 8, 10, 12 and 16). If your blood test doesn't reveal one of these recognised genetic diseases then it is possible that you could have another (undetermined) strain of Cerebellar Ataxia.
Of course there are many other causes of ataxia and your neurologist (through knowledge and experience) may feel that your ataxia problems are caused by something else.
C:) Hi, I was glad to find your site but, my questions are due to having ATAXIA connected to having chicken pox. My daughter was getting over hers and she started slurring her words and her gait was off. Do you have any info about this if so please email me back.....Thank you...
Thanks for your email but I'm afraid I know nothing about a link between Ataxia and chicken pox.
However: Most internet sites about the Ataxia condition seem to discuss a cerebral (or brain) cause. Searching through the medical dictionary linked through my web site [Just click here] for 'C' --> 'Chickenpox' it states that "There can be 'Complications' of chickenpox including 'Pneumonia' and encephalitis". 'Encephalitis' is an 'Inflammation' of the 'Brain'. This may be a reason for the Ataxic symptoms that you have noticed in your daughter.
I really do think that you need to discuss your daughters condition with a physician as I am really not qualified to make any sort of diagnosis. However I do hope that this information will be of some use. Best wishes. PS. I would be grateful if you would confirm that you have received this reply.
B:) Would this website help somebody with SCA6 ataxia.
Yes - The 'SCA' (Spino Cerebellar ataxia) diseases are all extremely similar and they are all 'dominantly' inherited. I believe that everything, except section 5 (the symptoms of SCA2), will be correct (although SCA6 will probably cause very similar symptoms). In section 9 - it will not be a defect in the chromosome located at 12q29.1 it will be a different chromosome that causes the SCA6 disease.
Section 14 will provide internet links to other SCA6 information sites.
I hope that my web site can be of use to others and I'm here to help if I can! - please pass it on.
A:) Information about Friedreich's Ataxia (FA) and abnormal gene repeats.
From Dr.M.Pandolfo ???
In Friedreich's Ataxia (FA) there are 2 abnormal GAA repeats, 1 for each alleles [gene string] (1 from your dad and 1 from your mom). The smallest number of the 2 repeats is the significant one. The higher that number, the symptoms appear sooner and progress more rapidly. That is true if you take a large sample of FA'ers and make a mean average overview. This has very little meaning on an individual basis.
A very good medical and genetic dictionary can be found at: http://www.online-medical-dictionary.org/omd.asp [Just click here]
Medical Information Sites containing data on many genetic and neurological diseases. [Just click anywhere in the article to activate a web-link].
1. US - GENE-REVIEWS - National Centre for Biotechnical Information [NCBI]: Enter the "Disease Name" [E.G. sca2] and select "GO". Choose the article that you are interested in [It is best to select but other options will link to other information]. *** EXTREMELY GOOD
3. US - PUB MED: A comprehensive list of published research/medical articles on a wide variety of subjects. Enter search subjects into the 'search for' section. Each article has good cross-links to other similar articles. * GOOD
4. US - NEUROMUSCULAR: Enter search keywords (E.G. sca2) into first search bar then click on "Neuromuscular Search" "start search". Spino Cerebellar Ataxias [SCA] are "Hereditary Ataxias" which are "Autosomal Dominant"
1. US - MEDICAL GENETICS AND NEUROLOGY, UNIVERSITY OF WASHINGTON: PDF Brochure [Acrobat Reader] about "Making an Informed Choice About Genetic Testing". This brochure was produced in November 1999 so is slightly out of date but is still an accurate and informative document. The brochure is in pdf file format and requires acrobat reader which can be freely download from the internet. NB. Give the file time to download. *** VERY GOOD
1. UK - Ataxia UK: A link to the UK's main Ataxia Charity which provides help/support for all types of Ataxia. This charity was formerly the National Friedreich's Ataxia Group so naturally Friedreich's Ataxia is an important aspect. Ataxia UK has a network of branches and local support groups throughout the UK where you can meet/communicate with local members.
2. US - National Ataxia Foundation [NAF]: A link to the United States main Ataxia Charity which provides help/support and funding for worldwide research into all types of Ataxia. NAF will also accept donations for research into a specific type of Ataxia [e.g. SCA2].
InterNAF (INTERnational Network of Ataxia Friends) is a large group of (general) Ataxia sufferers and they provide a great e-forum where you can openly discuss all aspects of the Ataxia illness. There are many members and if you want to discuss a specific symptom or illness there is usually someone in a similar situation or location who will be pleased to discuss it with you. The InterNAF mailing list information can be seen at http://internaf.org/network.html [Just click here]. To join this group [and to send/receive messages] you simply need to send them an email. Please read the "InterNAF mailing list general instructions".
Living With Ataxia is a worldwide Organisation/Group for anyone who is struggling with any type of Ataxia. Their goal is to connect you with others so that you don't feel alone. You may want to ask a question, start a debate [forum], make friends or just chat . Web address = http://www.livingwithataxia.org/
I hope that the information on my web site has been helpful/informative. If there is anything that you did not understand, if you have any comments or questions then please email me on...
(NB. Emails which may be of interest/help to others may be edited, to ensure anonymity, and then they may be displayed in the 'Any Other Questions' section)
[if you would prefer your emails to remain totally 'confidential' then please tell me and they will not be displayed].
"Thanks and best wishes - Martin"
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Thought for the day:
'God grant me serenity to accept the things that I cannot change, courage to change the things that I can, and wisdom to know the difference.'
Make the Most of Every Moment:
A friend of mine opened his wife's underwear drawer and picked up a silk paper wrapped package: "This, he said, isn't any ordinary package."
He unwrapped the box and stared at both the silk paper and the box. "She got this when we went to New York, 8 or 9 years ago. She has never put it on. She was saving it for a special occasion. Well, I guess this is it". He got near the bed and placed the gift box next to the other clothing he was taking to the funeral house, his wife had just died.
He turned to me and said: "Never save something for a special occasion. Every day in your life is a special occasion".
I still think those words changed my life. Now I read more and clean less. I sit on the porch without worrying about anything. I spend more time with my family, and less at work. I understood that life should be a source of experiences to be lived up, not survived through. I no longer keep anything. I use crystal glasses every day. I'll wear new clothes to go to the supermarket, if I feel like it. I don't save my special perfume for special occasions; I use it whenever I want to.
The words "Someday..." and "One day..." are fading away from my dictionary. If it's worth seeing, listening or doing, I want to see, listen or do it now.
I don't know what my friend's wife would have done if she knew she wouldn't be there the next morning, this nobody can tell. I think she might have called her relatives and closest friends. She might have called old friends to make peace over past quarrels. I'd like to think she would go out for Chinese, her favourite food.
It's these small things that I would regret not doing if I knew my time had come. I would regret it, because I would never again have the opportunity to see my friends or to write the letters that I wanted to write "One of these days". I would regret and feel sad because I didn't say to my brothers and sons, not times enough at least, how much I love them.
Now, I try not to delay, postpone or keep anything that could bring laughter and joy into our lives. And, on each morning, I say to myself that this could be a special day. Each day, each hour, each minute, is special.