Living with CMT Day 22: What is CMT?

Today seems like a good day to answer.  What is CMT? CMT is Charcot Marie Tooth disease (or disorder).  Doctors Charcot, Marie, and Tooth all identified the disorder within a short time frame.  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 as 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.

My story began as a baby.  I hit physical development milestones late.  I tired easily.  I was the best baby.  I slept so much.  I didn’t walk until 18 months old.  I was a toe-walker, especially in the morning.  I couldn’t wear any flip-flop type shoes.  My mom took me to doctors, who puzzled over my high arches, but couldn’t find an answer for her.  I was quirky.  But mostly normal.

Until a routine scoliosis screening in junior high.

I’ll continue the story soon.  For today, I must say enough is enough.  Time to rest :)