Wednesday, August 16, 2006

Definitions and Me

What is CMT? First of all I'll give you wikipedia's quick definition of it:

"Charcot-Marie-Tooth disease, also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. Though presently incurable, this disease is one of the most common inherited neurological disorders, with 36 in 100,000 affected."

There are many different types of CMT: 1A, 1B, 1C, 1D, 2A... etc etc. They are all different, but as far as I can tell, have similar effects. I have CMT1A, so I know the most about that type (it is also the most common, affecting approximately 80% of CMT patients) and will be speaking from my perspective.
To clarify wikipedia's words, CMT is genetic. Example: I have it, my father has it, his mother has it, her father had it, etc. However occasionally there is a spontanious mutation in the genes and someone has CMT without having a parent who has it. (this is very rare)

I will go into more details later, but now I'll tell you a bit about me and why I'm writing this blog. Through my teenage years I have researched a lot about CMT, to try to understand it better. I only really found out I had it when I was about 13, when I started getting nerve pains in my arms. I've found that most sites that talk about it are very hard to understand, so I want this to be something that people can look to for easy to understand information. This will also be a journal for me. I'll write about things I'm trying, changes, new research, etc. I hope that eventually people will understand this disease (ugh, I don't like that word) better, and that together we can find a cure for it.

-Char

2 Comments:

At 5:16 PM, Anonymous Anonymous said...

I am a 72 year old female with CMT1B. I just want you to know I really appreciate this blog about CMT. Well written. I take L Carnitine, CoEnzyme Q10, Alpha Lipoic acid and Vitamin C (tho, like the author, not 1000 units or more as it made me ill also). I feel the Alpha Lipoic Acid really helped my balance and walking to some degree. I take 400 units of it.
Incidentally, I was not diagnosed until I was in my late 60s when I started falling for no reason and then walking became harder and harder and feet went numb and can't move toes, etc. But now I know why I could not run and play like most other kids when I was young.

I inherited this from my father and his father before him, but no Dr. at that time around this part of Pennsylvania. aparently knew about CMT as they never put a name to it.

 
At 6:25 PM, Blogger Char said...

Hi June, it's great to see you here and I'm glad you like my blog! Thank you :)

It sounds like you're on a good list of supplements. I'm not as familiar with CMT1B, but if there's anything you'd like to know about let me know, I can either tell you personally or make a post about it.

It can definitely explain a lot of things in childhood, it's been the same for me.

I'm glad you they did find out what it was, and that you're apparently looking into it! I hope to see you here again. Take care :)

 

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