CMT
CMT is Charcot Marie Tooth disease (or disorder). Doctors Charcot, Marie, and Tooth all identified the disorder within a short time frame in 1886. So they all gave their name to the condition. CMT has nothing to do with teeth. CMT is a genetic disorder that affects nerves, specifically the insulation around nerves (Myelin). A duplication, or mutation of a specific gene disrupts the healthy transmission of information. The insulation starts breaking down. The nerves essentially die. Then the muscles depending on those nerves weaken. Tendons shrink. Joints loosen. The body does the best it can to compensate.
These days, the complicated CMT name is sometimes changed to Hereditary Sensory Motor Neuropathy. CMT varies widely from patient to patient. CMT can manifest at a very young age and lead to bracing and surgeries for children. CMT can also be very subtle and remain undiagnosed for decades. The CMT spectrum has many official variations which are caused by different mutations: CMT 1A, CMT 2B, CMTX, and many more. The National Institute of Neurological Disorders has great detail about the variations. CMT is a genetic, lifelong condition. CMT is degenerative. CMT has no cure. Despite the fact that few people have heard of CMT, it is the most common inherited neurological disorder.
There is research, of course. We hope for a cure within a decade, or at least a reprieve from degeneration if scientists could mute the duplicate gene. We hope. CMT patients and researchers are helped by the Muscular Dystrophy Association. However, CMT causes nerve damage which leads to muscle loss, which is not the usual path of Muscular Dystrophy.
In 2005, I wrote a detailed article about my journey with CMT, My Quiet Monsters. Click here to read it.
I need to add another chapter to catch up with the past six years. It’s quite a journey 
And who know where it will take me next . . .
Your blog is awesome. Thank you so much for providing plenty of awesome content. I will bookmark your blog siteand will be without doubt coming back. Once again, I appreciate all your work and also providing a lot vital tips for your readers.
I just found you!! I’m a mom, a teacher, and a wife with CMT. Very frustrating. I live in Miami and thought it would be a hoot if you did a podcast on having CMT and visiting the beach. My friends don’t bother inviting me to the beach anymore. I have trouble explaining why it is just way too hard.
I just turned 39 and I am retiring this year due to the fatigue and leg issues. I laughed when you spoke about the wheelchair thing because I too have felt embarrassed when I’m in the chair (currently I am in a chair due to a recent surgery).
I’m always looking for new CMT friends so I’d love to keep in touch and also would ask if any of your listeners with CMT live in Miami…I’d love to get to know them too.
Thank you for doing this. If I had heard the CMT podcast the day you did it live, I certainly would have called.
Cristal
Sorry. I just had to add after listening to #23 that I too am first generation American and my mom seems to be the one who started CMT. We couldn’t figure out anyone else either. Between my mother’s father and mother they have 10 children and only my mother got the gene.
Yay! I am so glad you found me!!
I’m 38 with two kids. I’ll write more soon- gotta get some sleep right now, but wanted to shout hurrah! your way
I look forward to getting to know you! Rock on! Lenka
An update…we found out that my maternal grandfather was actually a carrier and has passed on his disease to, not only my mom, but to an additional two children. We figured it out when my great uncle was diagnosed recently. He is Cuban.
Wow, did your family agree to testing? So far, I’m the only one in my family. I hope the diagnosis helps your uncle get resources and support. I haven’t heard of a Cuban connection before. Interesting.