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Cerebellar atrophy
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Cerebellar atrophy

I am  a pianist/music teacher and about 18months ago I noticed that when I practised for a long time I would get contractures in my left hand.  At the same time I noticed that when I went for walks ( I am active in outdoor pursuits) I always seemed to be stiff afterwards. My piano playing ability seemed to be deteriorating..which I put down to too much work!  However I suddenly was finding it difficult to walk any distance at all as my legs would get stiff.  My GP referred me to a neurologist who noted that I had asymetric reflexes, with pathological briskness and told me I had a spastic myelopathy.  I have had few other symptoms only a light blurring of vision in my right eye, some bladder irregularities..sometimes frequent, sometomes spastic, and a dodgy balance.  Also my piano playing is nothing like as accurate as it was. Now I am expereincing extreme weakness, especially in my arms..like I have problems draining saucepans or reading heavy books. AN MRI scan showed markedly enlarged cerebellar sulci, and a dilated fourth ventricle.(I.E.Cerebellar atrophy.)  Ohther than that all tests..EP's , CSF, Extensive blood tests for lupus and B12 deficiency have all been negative.  My consultant says this rules out MS..which was his initial diagnosis, Lupus and B12 deficiency.  AS I do not have a full range of cerebellar symptoms (only the slight balance problems and spasticity) he is reluctant to say it is cerebellar atrophy, until i have repeat scan in 18months time.  In the meantime he is attributing my symptoms to  a post viral syndrome.  I am now noticing that my scalp and face feel stiff, and I occassiaonally talk as though I have been to a dentist. Also thigs over the last few months seem to be getting marginally worsr..whereas I only had sever spasticity when I was ill or stressed it seems to be more regular...the days when i felt almost normal have gone.  I have tried to keep myself fit by swimming 3 times a week, but it exhausts me now, and I notice that my muscles are beginning to bulk.  Do you feel that the cerebellar atrophy is significant? I guess   i should also tell you I am a carrier of Fragile X Syndrome.
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Dear Jane:

I am very sorry to hear about your symptoms.  I would be alittle unusual for the MRI to be perfeetly normal with only cerebellar atrophy and have brisk reflexes, as we think of cerebellar disease to give decreased reflexes and the stretch reflexes are monitored by the ceebellum.  There are some of the spinocerebellar ataxias that might fit your condition.  There are some commerical testing available for most of these entities.  There is a vitamin E deficiency syndrome (genetic disease) that might produce some of the symptoms.  Mitochondrial disease can also mask itself to look like a spinocerebellar ataxia.  I think I might purse these lines.  I am sorry that I am not much help.  I do hope you find the etiology to your problem.

Sincerely,

CCF Neuro MD
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My mother has been diganosed with Cerebellar atrophy today, after 15 years of beleiving she had MS!!!

This is a completely new concept to us and we are quite frightened about the prognosis. The Dr explained what has happened to her brain, but we still do not know what the long term prognosis is. We do not really know if it heriditary - obviously this is very important to me as not only my mother and myself could be affected, but my 2 young children too.

How quickly does it progress, and is there anything we can do to help/slow it down??

I would apprieciate any info or advice on this subject PLEASE.

thank -you
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