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Diagnosed with Cerebellar Degeneration (heredity)

I was diagnosed with hereditary cerebellar degeneration about five years ago. In my family, my grandmother, my father, my uncle and three out-of-four of his children have it. It seems to onset in the early forties of age. I have many more relatives who do not display any symptoms. I have slurred speech, frequent weak spells, weak spells in my voice, depressed most of the time, sexual impotency, occasional falling or stumbling,occasional tremors in the left hand,lack of balance and coordination, numbness in right leg after standing for more than 20 minutes, and a tendency to drag my right toes. I have seen a neurologist for a few years now and he tells me that the disease is progressive. Mine has gotten steadily worse over the years. He tells me that there is no cure, treatment, nor anything that can be done to slow or improve the condition. I have seen relatives I have get it in the early forties and end up in wheelchairs in their 60's. Just how common is this sort of thing? I would like to hear from others who have this diagnosis. I am interested in any studies or research cases with this disease.
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Avatar universal
First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes.
   The symptoms you describe are not specific, but it sounds like you have one of the Spinal Cerebellar Ataxia's (SCA's), which their are currently 21 different types.  These conditions are progressive and no known treatments exist.  The standard of care in these cases is to rule out another possible/and potentially reversible cause, to make a specific diagnosis with genetic testing and to provide supportive care.  I would recommend that you have an MRI brain and spinal cord with contrast and an EMG, thryoid panel, B12, copper, vitamin E, gliadin antibodies, monoclonal screen, ANA and a SCA panel of genetic tests.  In terms of supportive care, you should see a professional (psychiatrist) to help manage your depression, have your home evaluated by a physical therapist/occupational therapist for safety evaluation and your ability to ambulate/ take care of your daily needs and see a movement disorders specialist (neurologist that has done a fellowship in movement disorders) to help control you tremors and balance problems.
These genetic conditions are a subject of intense research and I hope to have better news on treatment options in the future.
I hope this has been helpful.
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Avatar universal
Hi,

I'm not sure how much of a science background you have but if you're interested in research studies you can try searching:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?DB=pubmed

There may be clinical trials out there on your condition. You can check at:
www.clinicaltrials.gov

Good luck!
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Avatar universal
Thank you, you have been very helpful. I have done some of the SCA tests you mention, but unfortunately insurance does not cover DNA studies very well. At this point, the studies I did have failed to produce any answers. That doesn't necessarily mean the answer is not out there; somewhere. My neurologist has also done many of the CT scans with contrast, MRI, and other tests that you mentioned. He seems confident with the diagnosis he has given, and his conclusions coincide with what my Dad's neurologist has said about his condition. I would be interested in volunteering for some kind of clinical trials or testing. I have a daughter, age 17, and I would like to help find some good news for her potential future and/or any children she may have. If we could only determine which gene is defective, then she could be tested to see if she even has that gene. Thanks again for your help; I have a strong faith in God that He knows the answer, and He may choose to share the answer someday.
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Avatar universal
A related discussion, SCA type 6 was started.
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Avatar universal
A related discussion, spinal cerebellar degeneration was started.
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