Great idea Blueberry. Singing should help regulate the breathing too sitting or standing.
When I had a sleep test because of my fatigue she told me that when I wake up (and I actually do this since then I forgot that I did, I think it's normal to do now). When I open my eye's look side to side without moving my head then my fingers strech and my arms over head and point my toes etc before I even hit the floor. She said it helps your body wake up to do what it needs to do.
After I stand up I stand for a minute to balance out (I think of a level that construction workers use) and have the bubble in the center of my head get more steady before I can walk. I find if I don't then I start falling when I walk. I do the same thing when I get up from sitting, even when I go out to a resteraunt. So if you see me standing for a minute by my table after eating you'll know why.hahahahahahha :0)
I know that sounds strange but some guy told me that a few years ago that had ataxia that's what he was told to do by his Dr. I found it worked for me, so I keep doing it. :0)
Singing is a great idea Blueberry! LIke you, I also need to do things to "get going" when I wake up in the morning. I'm the same way, Jeannie, I have to stand for a minute after I stand up (from a sitting position, or when I get up in the morning) and get my bearings before I walk, or else I might loose my balance and fall. I don't know about you, but my muscles get stiff when I sit, so when I stand up, I need to loosen up before I walk (hard to explain how I feel). I use a cane so that steadies me. I feel "discombobulated"when I try to move sometimes...ha! Must be part of belonging to the "ataxia" club...ha!
There seems to be a connection to Parkinson, because Parkinsons is listed in one of the symptoms list of SCA i found in the web recentl symptoms. I also grew up with a disability of my grandfather, diagnosed as Multiple Sclerosis. We all thought that this was MS. As my uncle and aunt got to gait problems, it lasted a long time till family recognized that this was a heridary disease, finally diagnosed sucessful as SCA6. Maybe your father has forwarded to you a hereditary ataxia, - could be a SCA6, because this develops usually from around the 50ies. My first symptoms which i now put into the SCA6 - context of my family where atigue, appearing so from 2002 on. Then i was 45 yrs old. But it could be that i heredidated a mutation or even new additional gen mutation which caused already problems beginning in the early childhood.. do nt know. In fact, my gait problems started only 1 1/2 years ago, when i was 53. Surely symptoms connected with my ataxia health problem arised in 2006 when i tried to get any diagnosis for my problems with breathing irregularities which started at this time - then it was diagnosed as a mixed sleep apnoa, obstructive and central. Then i was 49...Could be SCA6 from your onset. SCA6 usually develops slowly, but with differenties between family members possible. So i estimate that your doctor only monitors your deterioriation which he awaits that this would appear, perhaps because he knows other patients with similar problems or has studied Ataxia somehow. In the view that your father could have had an SCA6 and not (only) Parkinsonism it could be helpful for you to read about the different family studies about families with SCA6. There could be a sort of special disease pattern in each family, and when you know the pattern, this could help you to orientate your self in the timeline.. For example the onset. Do you remember when the onset of parkinson disease in your father was? How old was he? If he is dead no and not able to answer, - perhaps you could contact a person who has known them earlier than you did.. In an Austrian article of the Parkinson Society i have found a symptoms list of patients who could be come to a neurologist for diagnosis, with suspected SCA forms these patients could have. I tried to upload the PDF, hopefully successful. On Page 3 of the journal you will find "Tabelle 2" with the symptoms list. One of the symptoms is called "Parkinson Syndrom" So if a patients shows signs of Ataxia, the doctor can first of all try to make a sort of first diagnosis. This would be for Parkinson Syndrom::
SCA3, SCA2, SCA12 and SCA17, alternatively: SCA21. So if your father had a SCA this could (not: must) have been one of these forms, and you could have hereditated this. But the onset in these other forms is - as far as i remember without controlling the lists - earlier than the 6th decade of life. In your case: There could probable having existed also other symptoms belonging to your ataxia syndrome before you met the neurologist first when you were 48. Or sort of pre-symptomatic state..?
The difference, i.e. not presuming that you have got SCA6 - which could have just happened by a new mutation never in your family before, but instead one of the other ataxias mentioned, could mean in result, that you would not have the usually-so-experienced typical slow progression, - perhaps, not possible to know without more investigation. But when your status has deteriorized in that extent that from frist doctors visit till today only three years have passed, this would not be the typical SCA6 and the doctor could have "diagnosed" you incorrectly.
Just i see it - you never did gene testing. It could be worth the effort! It could be a de novo mutation, and anyway, some tests should be payed by public health insurance. Also if nothing will be found, it could be a new unknown mutation - in your family or newly appeared with you. Please look into the forum, there was an article posted about recent advances in diagnosis of SCAs - a big percentage of persons remains undiagnosed. Then you shoulld in my view treated after your symptoms considering the worst possible development watched in the known mutations and to await from the development of your symptoms in the last years...perhaps without doing harm and with your informed consent.
good luck, have nice day. i will now try to phone to these persons who want to visit me today to give me some assistance and help.
Here you find an overview of the Genetics of (heriditary) Ataxia from the Webside "We Move" http://www.wemove.org/ataxia/ata_gen.html You see: for all of the mentioned SCA variants there is genetic testing available. So you could try to get this genetic testing first.
If nobody would provide you for this testing, you could first do an eye-motor-test. SCA2 and 3 have specific eye features. Thanks to the perfect organisation of the Forum Webside i was able to copy the overview in this posting. You can see the specific eye symptoms for SCA2 and SCA3 below. If you cannot identify some, then you could go to a university hospital, special neurologic ambulance, for the eye test, which was also performed with me last week. its fast and cheap in relation to the high sums of money the testing center for that costs supposedly. They will do the test with you, surely. It s fast not invasive. As the GenTesting - for SCA6 at least is not done with blood but with spittle.. SCA2 and SCA3 are the most common SCAs, - as there is the percentage indicated on the right side of the chart. But to see this you have to click on the link above to see the whole chart.
Thanks for the info about Parkinsons which I have read. Dad was 48 and had a virus and then Parkinsons.He was 50 but we noticed his reluctance to open door handles first.I was about 15 and was told aat first that it was psychiatric and then it was parkinsons. He had a lot of pain from mucle cramps but all of this was in the late 70s.I went into my 20s and the question then was where to put dad.I think he had Parkinsons and something else.The doctors at the time didn't know as much as they do today.He had some of the movements like me but not the speech difficulties but a lot of pain.
In contrast I have been given no drugs.My movement is worse but I don't have any pain .I have trmors when vewry stressed.I cannot write now.At first I thought it could be SCA6 as another in our group has that one and has the same difficulties as me but I have been to Oxford for a genome test and it has not been mentioned.I have just been informed it is CA without a known cause..I have cerebellar degenerartion but I don;t know why.In the past five years I have gone from talking and walking to not walking outside and having speech difficulties.I do not know if this rapid detioration or slow progression.
You can seew why I made the connection between ataxia and Parkinsons.It feels a bit like history repeating itself.
In my view it rapid in comparison to my uncle and aunt. Its 25 years after his first symptoms and he is able to phone with me.Speech impaired and slowed down, - but he can. The same my aunt as far as i know (no contacts in the last years must ask my family).
Even if it would be a SCA6, the apparence of this differs, might differ from family to family. In one of the reviews i read there was described an SCA6-family where the single acerbations of the symptoms were changing from episode to episode. If i would have SCA6 this would mean that my mother would have it also, although their symptoms are not the characteristic ones. In my case - as far as i am able to see today - there has been a formerly perhaps not reported chronology of symptoms. i had the breathing irregularities long before the walking problems appeared. Furthermore, a experienced a pychiatric crisis, beginning in the age of 24 then stopped by meds and reappearing 1993, always after a child-birth, which could also be in connection with a gene mutation or my special one. The mutation of SCA6 is a special one and is responsible for different diseases (one episodic ataxia, hemiplegic familiary migraine and SCA6), also this mutation happens not far from the gene place where "schizophrenia " is reported to be favorized, and it could be, that more than only the SCA6 gene mutation/deletion etc. has happened in my family, but also mutations nearby which can cause psychiatric symptoms. There are existing reports about the coincidence of (periodic) ataxia and psychosis. I have read recently (could not find it fast yesterday when i tried this) a report about a patient with frequent periodic ataxias and an - untreatable -psychiatric syndrome with hallucinations etc. from which he suffered much. The psychiatric symptoms could not be treated successfully be the neuroleptic medication available, but the periodic ataxias could be treatet with Diamox (when i remember correctly). In my view, it s a miracle why neuroleptics did not help all the time for this patient. This could be a problem with enzyme deficiency, not adressed or discovered by the treating psychiatrists. So there might be a genetic link between psychiatric diagnoses, inheriditated vitamin deficiencies and ataxia - mutations probably located all in the same genetic area. In our family in my view there has always been a psychiatric or psychological involvement occuring with this SCA6. I am If you are happy for it, - at least this involvement means for me to be of a good mood! (in some cases also other problems, but in mine also very positive from the outcome!) In the case a family has got such a disease as SCA this psychological status is helpful.
The doctors who recorded you genome, should really know if they also know the SCA mutations. Probably it is another test you did, much more sophisticated, but not covering your ataxia. Don t know.
When your father received treatment for psychiatric reasons, perhaps he got also medicaments which caused the Parkinsonism? I Sort of parkinson can be a side effect of neuroleptics,and so patients often get an extra med for this additional condition,, caused by medicament. I think SCA consists most time in a bundle of symptoms, Horrible what your father had to suffer with his muscle cramps.. I phoned to day to a doctor of the university of Innsbruck who told me, that SCA6 very often is connected with psychiatric symptoms. Actually i don`t think that i have such symptoms any more. There was a difference of 10 years as a minimum between my last psychological crisis and the first symptoms of ataxia.
I'm 58 yrs and was diagnosed with sporadic cerebellar ataxia about 8 yrs ago (non-hereditary/unknown cause). Because I have grown children and now young grandchildren, I went through genetic testing for the known "recessive" ataxias and all tests came back "normal". So, as previously diagnosed, my ataxia is more than likely non-hereditary/unknown cause, therefore, "sporadic". This is great news for my children/grandchildren! I still don't know why I have ataxia and in truth, will always wonder. I'm just "special" I guess...ha! So far I haven't received any bills for the testing, so I think my insurance covered it, as I was previously told.
Dad was treated with extreme steroids in hospital then he developed Parkinsons after. He had a peculiar muscle thing which they thought was a virus.My Mum was convinvced there was a link with weed killer because he used to wear paraquat on his back without a mask.He was a forester and they didn't know the harm then.My theory is that a combination of things which nobbled his brain cells.My diagnosis is like SCA 6 .I am not in a wheelchair yet but I lurch from piece of furniture to the next.
I have had several bouts of depression which at the time I didn't understand but I have had no diffculties cognitively,
My writing has deteriorated.I did not have any problems until 5 years ago as I was still teaching and wrote hundreds of reports.
There were surely serious toxic agents and/or an infection contributing to the onset of Parkinson in your father. Maybe there could have beein an underlying SCA mutation which he had before, and the might-be-infection and/or the poison have triggered the outbreak of a Parkinson-like disease. You will be right with your combination - theory anyway. In my case there was a long stationary stay in 2007/2008 with also high doses of steroids for a post transplantation state with a Graft-versus-host-Disease, and after the release from the hospital i developped a fatigue, - i needed 12 hours per day to sleep and/or lie in the bed. When i tried to escape from this unsatisfying situation by starting with outdoor activities and engagement, i developped the walking problems and falls, balance problems, very soon. Maybe my steroid treatment played a role in it. I know this lurching from piece to furniture to the next. These have been under my worsest situations within the last weeks as i was in the state for one day and again one day, beside that, also outside of the house not ably any more to go home by feet, even with walking sticks. When trying to do an analysis of that state, i would say, it was a sort of acute acerbation triggered by gluten food, not having slept enough, beeing tired in the evening, or having not moved much for some hour before standing up and trying to walk- from my room to the kitchen. From this state there was no possibility to change to a better one. Sleeping in the night improved it a little but not in a sufficient way. Maybe it was also bad that i changed always my body´s center of gravidy from my legs to the left hand to one leg, to the right hand or so. and this was irritating for my body. In my desperation i consumed 6 x 1/4 tablets Diamox morning - evening. There seemed to be caused side effects on my eyes - despite the small dosis - and i stopped the intake. Diamox seems to have helped already . And also i was going to bed sooner as on the other days.; starting to sit/with meditation. The combination could have caused my amelioriation. And then i learned from this forum how to walk. I had already taken crutches and could stop to use them. Hopefully, this state will last. i am refusing to accept the unreversible deterioration. Normally, when your writing is bad, you could talk and/or dictate in a dictation system what you want to express. But when your speech is also slowed down/impaired, what can be done in such a case? For me this would be a problem actually seemingly without solution. Because it hinders my thinking, when i am not able to express it, in the way, that i would not be able to write down the things i think in a prolongued period. I loose my thoughts in the time necessary to bring them to paper. So i hope that i could understand your situation a little, and i am starting to try to find solutions how to cope with a similar situation which could happen in the future. My uncle, 79, is quite much impaired by his SCA6 and moves very slowly with small steps. But as i remember from last time he walks without walking stick, only somehow conducted by my aunt. So he has got the right technique. This gives me hope that i will cope in the same way. Maybe there exists a better solution for your walking problem than the actual one, giving you back the standing by your own. Have you ever tried another technique of holding your equilibre? In my experience the potential of big disturbances of balance are always existing, but their activation could be avoided by technique. A system which can disturbed much easier as in "healthy persons." ... Already too much written. Good night if you are still on your computer! Margarete
I know this is months late, but I also was tested for FXTAS. I was wondering, what were your symptoms?
Lorinn Coburn said:
The neurologist that I saw at OHSU (Oregon Health Science University) had me tested for FXTAS (Fragile X Tremor/Ataxia Syndrome)
, which is a hereditary condition related to Fragile X Syndrome. I tested positive. The value for me lies in knowing what caused this illness; my mother, uncle, and brothers also were affected. It was also valuable because of genetic counseling; my daughters have a 50% chance of being affected, and if they are, their male children could be born with the full mutation of Fragile X.