I've lived with CMT since my early 20s — more than half my life. The disease has progressed slowly over the years, mostly affecting my lower legs and hands, so that now I use a manual wheelchair part time.
In 1991, the genetic causes of Charcot-Marie-Tooth disease (CMT) were completely unknown. By a decade later, MDA-funded scientists had helped identify 10 CMT-linked genes and found evidence for several others. (There are now thought to be more than 30 genes in which flaws can cause CMT.) This accomplishment has led to genetic testing for many types of CMT, which has greatly improved diagnosis.
Of equal importance, the ongoing hunt for CMT genes has given insights into treatments that might be used to stop or reverse the disorder.
Peripheral nerves control movement by relaying impulses from the spinal cord (not shown) to the muscles (shown in the forearm). They also convey sensation and help with balance and awareness of the body’s position.
A combination of lower leg weakness and foot deformities is a red flag for Charcot-Marie-Tooth disease (CMT) but isn’t sufficient for diagnosis. When a patient has those symptoms, a neurologist will usually start with a physical exam to look for further signs of distal weakness and sensory loss.
As a test for leg weakness, a neurologist might ask patients to walk on their heels or move part of their leg against an opposing force.
Dejerene-Sottas (DS) is a subtype of Charcot-Marie-Tooth disease (CMT), a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs. DS is named for Joseph Dejerine and Jules Sottas, French neurologists who first described the disorder in 1893.