Charcot-Marie-Tooth's disease

March 2017


Definition


Charcot-Marie-Tooth's disease, also known as CMT, is a group of neurological diseases of hereditary genetic origin. It affects certain parts of the spinal cord, including the nerves connecting muscles, resulting in motor and walking disorders. These diseases usually appear during childhood or adolescence. Although they may be debilitating, they do not alter life expectancy. They are not to be confused with Lou Gehrig's disease (ALS), a very serious form of sclerosis that may be life-threatening.

Symptoms of Charcot-Marie-Tooth's disease
Symptoms are progressive and evolve slowly over time. The disease begins primarily with numbness and weakness of the muscles of the foot, leg and calf, before spreading to the hands and arms. This often results in children who are slow to start walking, who experience cramps, difficulty running, frequent falls, and a tendency to waddle. The feet grow yet undergo a slight deformation, and muscle atrophy in the legs is visible and palpable to the touch.

Diagnosis


Diagnosis is made primarily by clinical observation of the patient, his progress and the state of his feet, legs, hands, his muscular bulk and nerve sensitivity. A test called an electromyogram and biopsy of a fraction of nerves strengthen the diagnosis.

Treatment


Despite the fact that research in this domain is very rich, there is so far no cure for Charcot-Marie-Tooth's disease, but only treatments to delay the progression of daily effects. Among these treatments are physical therapy, the wearing of a splint and orthopedic shoes or the use a cane. Orthopedic surgery in some cases may also provide relief. The use of a wheelchair is often necessary.

Related

Original article published by . Translated by Jeff.
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