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Could dystonia, ataxia, and spasticity be related?

      Re: Re: Could dystonia, ataxia, and spasticity be related?

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Posted by CCF Neuro MD *!* on December 02, 1997 at 20:48:32:

In Reply to: Re: Could dystonia, ataxia, and spasticity be related? posted by MARIA on November 21, 1997 at 16:09:59:

  : I have a 5 year old son, who up until February of this year was perfectly normal.  He had been having some speech difficulties, but nothing that I was very worried about.  He was evaluated by the school board to see if he qualified for speech therapy, and I was told that there was some evidence of something more and that I should go see a neurologist.  The following week we went and I was told that my son was spastic and had mild microcephaly( It is not known if the microcephaly is related to his illness). A MRI was ordered for 2 weeks after this visit.  I was devestated, but still he seemed fine until, about 1 week later when he was having difficulty walking and talking.  He went for the MRI the next day and it was normal.  His symptoms subsequently have been rapidly progressing. Not only are his speech and walking being affected, but he also starting having tremors of the head, tounge, and fingers.  He also has body tremors from the waist up. He was also having swallowing difficulties, choking and so forth.  He is also ataxic.  He has since had several more MRI's of the brain, cervical spine, and lumbar.  He has had lumbar puncture, been tested for ALD, ALS, MS, Joseph-Machado, AT, Pompe's, Sandoff's Disease.  He has been checked for heavy metal poisonings, amino acids have been checked. He has had ultrasounds of the abdomen, kidneys, etc., to rule out neuroblastoma. And alot more that I can't remember. Still no answers. One neurologist suggested possibly that it could be dopa sensitive dystonia. So we started him on Sinimet, it made his symptoms better, but did not make them disappear. Dystonia was ruled out. However, he has started showing some dystonic characterisitcs. He will be tested next week for Friedrich's Ataxia and Krabbes. His doctors feel like he has some type of spinocerebellar disorder. Possibly one of the Ataxia's or Familial Spastic Paraparesis.  He is also under the care of a Geneticist. I should also mention that his cerebellum is very small, indicating possible degeneration and his Visual Evoked Potentials indicate demyelination of the optic nerve. Although interestingly enough his last visual evoked showed improvement.
  : My sister has had voice problems for several years and the doctors think she has chronic spasmodic dysphonia.  Through her research I learned that this is a dystonia related illness.  
  : My question is this: given all of my sons symptoms could this be a dystonia related illness?  Do persons with dystonia also have ataxia or could they?  Any information would be greatly appreciated.
    I guess what I'm trying to find out is could my sons illness and my sisters be related?  Or is it probably just a coincidence?
    And does this sound familiar to anyone else out there? Anyone with any information, I would greatly appreciate a response.
    Please answer soon!
Dear Maria,
Dystonia is a very unusual finding in spinocerebellar degeneration and is not part of the usual clinical descriptions in text books. I did 15 year review of the medical literature using Medline which reference 3,600 medical journals and succeeded in finding two case reports of families with members with these disorders. One reported from the Dept. of Neurology ,Graduate hospital , Philadelphia in 1994, reported a family of three siblings where one sibling has dystonia, one has cerebellar ataxia and one has both. The authors query as to whether these are manifestations of the same disorder.
A second case report from Japan in 1989 reported a 31 year old woman with spinocerebellar degeneration  and dystonia , her aunt had a similar problem.
Finally a paper from France in May 1997, (Journal - Human Molecular Genetics 6 (5) pages 709-715), reported a survey of the genetic defects in 184 patients with spinocerebellar ataxia type 2, and refers to the fact that dystonia was found in some cases.

This information is provided for general medical education purposes only.
Please consult your physician for diagnostic and treatment options of your specific medical condition.

    Thank You

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