Member Comments are provided by individuals and reflect their personal opinions only. Under NO circumstances should you act on any advice or opinion posted in this forum. ALWAYS check with your personal physician before taking any action regarding your health! MedHelp International and our partners, sponsors and affiliates have no obligation to monitor any comments posted on this site, or the content and/or accuracy of such exchanges. MedHelp International does not endorse the views of any user.
Neurology (Expert Forum)
Diagnosed with Cerebellar Degeneration (heredity)
This forum is for questions and support regarding neurology issues such as: Alzheimer's Disease, ALS, Autism, Brain Cancer, Cerebral Palsy, Chronic Pain, Epilepsy, Fibromyalgia, Headaches, MS, Neuralgia, Neuropathy, Parkinson's Disease, RSD, Sleep Disorders, Stroke, Traumatic Brain Injury
Diagnosed with Cerebellar Degeneration (heredity)
by Bubba Gump, Sep 09, 2006 12:00AM
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.
Doctor's Answer
by CCF-Neuro-M.D.-SH, Sep 11, 2006 12:00AM
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.
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.
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!