Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs.
Since CMT is primarily hereditary, it is important to tell the doctor about any other family members with CMT-like symptoms. Lack of family history does not rule-out CMT, but it will cause the doctor to look further to rule-out other causes of neuropathy, such as diabetes or exposure to certain chemicals or drugs. Further testing may be electrodiagnostic, genetic, or both.
What are the Symptoms of CMT?
First signs include frequent tripping, ankle sprains, clumsiness and “burning” or pins-and-needles sensations in the feet or hands.
Structural foot deformities such as high arches and hammertoes are common.
Muscle wasting in the lower legs and feet may lead to foot drop, poor balance and other gait problems.
Muscular atrophy in the hands often causes people to have difficulty with tasks involving manual dexterity, such as writing and manipulating zippers and buttons.
Abnormal sensation in the extremities and an inability to sense where one’s body is in space are also common, and many people experience neuropathy, muscle or joint pain.
Poor tolerance for cool or cold temperatures is typical and many people have chronically cold hands and feet.
Additional symptoms may include fatigue, sleep apnea, breathing difficulties, scoliosis, kyphosis and hearing loss.
A CMT diagnosis involves clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing.
Is there a Treatment for CMT?
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 correct deformity and help maintain mobility and function. Occupational therapy and adaptive devices can help people perform activities of daily living.
Onset of symptoms of CMT is most often in adolescence or early adulthood, however presentation may be delayed until mid-adulthood. Progression of symptoms is very gradual. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain. There are many forms of CMT disease. The severity of symptoms may vary greatly among individuals and some people may never realize they have the disorder. CMT is not fatal and people with most forms of CMT have a normal life expectancy.
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(NINDS) The National Institute of Neurological Disorders and Stroke (NINDS)