Machado-Joseph Disease

[Eleonora]

I'm 42 years old and was diagnosed with type III Spino-cerebellar ataxia (MJD) through a DNA examination three years ago. I decided by myself do exercises, physiotherapy and phonoaudiology in order to help me keep walking, talking and swallowing as long as I can. My mother also had this disease, and she died with 54 years old. I have a symptom she never had, diplopia, and I could find nothing to relieve this up to now, and it seems to get worse. I have miopia too, so when things get too bad, I put a tag over the lens on the eye with which I see worse, so I see only one image. But it also makes my balance worse, and when I take it off, my diplopia seems also worse.Do you have any physiotherapy, exercice or medicine to indicate me?
Recently, I started having tremors on my hands, when at rest or doing light movements. When it is bothering me to sleep, I simply lay down on my hands, so I do not allow them to shake. What can I do for this (in a more effective way?)
Do you think vitamines (and creatine) would help me?
I still have no problems with computer typing, as I do this all day long (I retired, as I walk hardly, but I can steel work as a translator, and I do this!)
Recently also I start to have pains (sometimes bad pains) at joints, mainly on shoulder. I never found this as a symptom of the disease. Do you think it could be, or is it something different?
Sorry about a so long text, but I have many questions and few answers. Any help will be wellcome.
P.S. I start this week making massages (shiatsu) and acupunture therapy twice a month. Do you think it could help?
Thank you very much for any answer,

Eleonora

[CCF Neuro[P] MD, RPS]

Dear Eleonora:

I am sorry to hear about your MJD.  This degenerative disease tands to fall into a couple areas, predominately a dystonic disorder or a ataxia with pyramidal signs and a third is predominatly amyotrophy.  Sounds like you have a combination of the later two areas.  You are doing the best you can do for your problems.  The patch will solve the diplopia.  The muscle problems might be helped by creatine, but watch for the side effects such as excess gas, abdominal pain.  There is a new formulation of a liquid that might help relieve this problem.  The tremors might be helped by levodopa.  

I wish there was something to offer you.  Unfortunaely, there is not much in the way of treatment with this disorder.  Hang-in there, it sounds like your resourceful and will help you in the long run.

Sincerely,

CCF Neuro MD