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. Two big organizations work hard to find a cure and help people with CMT. They are the Charcot Marie Tooth Association and the Hereditary Neuropathy Foundation. They both have great resources and information. CMT patients and researchers are also 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 about my journey with CMT, My Quiet Monsters. Click here to read it.
I need to add another chapter to catch up with recent years. It's quite a journey :)
And who know where it will take me next . . .