Patient Experience
The CMT Patient Experience
The Charcot-Marie-Tooth (CMT) disorders are a collection of rare diseases, which taken together represent a relatively high frequency in the population (1:2,500). Each of the CMT disorders are monogenic, meaning they are caused by an error in the DNA of a particular gene. The affected gene encodes important instructions required for the normal function of a Schwann or nerve cell, which is disrupted in CMT. The different CMT disorders can differ in the age at which symptoms first appear and the cause determined, and in how fast a person’s disability increases with age.
HOW DOES CMT AFFECT AN INDIVIDUAL?
CMT affects the peripheral nerves that branch off from the brain and spinal cord. When CMT damages these nerves, it causes severe muscle atrophy resulting in progressive loss of function and sensation in the hands, arms, legs, and feet.
WHAT ARE SOME SYMPTOMS OF CMT?
CMT affects everyone differently, meaning that patients could have different combinations and severities of symptoms while some patients may not experience them at all. Common symptoms include muscle pain, nerve pain, high arches, numbness and muscle atrophy in the legs and arms, drop foot, a loss of grip strength in the hands, increased difficulty walking and balancing, chronic fatigue, curled fingers/toes, cold hands/feet, and in some cases, changes in peripheral sensation (for example, sensitivity to touch and cold) and some patients experience breathing difficulties.
IS THERE A CURE FOR CMT?
Currently there is not cure for CMT, but it is not usually fatal, though it is severely disabling in some cases.
Although there is no drug treatment for CMT, physical therapy and moderate activity (but not overexertion) can help maintain muscle strength, endurance, and flexibility. Mechanical supports like AFOs (ankle-foot orthoses) and custom-made shoes can improve gait and balance. When medically indicated, orthopedic surgery can improve deformity and help maintain mobility and function. Occupational therapy and adaptive devices can help people perform activities of daily living.
