Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is an inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. The disorder is caused by the absence of molecules that are essential for normal function of the nerves due to deficiencies in the structure of the genes coding these molecules. The absence of these chemical substances gives rise to dysfunction either in the axon or the myelin sheath of the nerve cell.

Symptoms usually begin in late-childhood or early adulthood. Usually, the initial symptom is foot drop due to involvement of the peroneal nerve, which is responsible from raising the feet, early in the course of the disease. Wasting of muscle tissue of the lower parts of the legs may give rise to "stork leg" appearance.

The diagnosis is established by electromyography examination (which shows that the velocity of nerve impulse conduction is decreased and the time required to charge the nerve is increased) and nerve biopsy. There is no treatment to replace the missing chemicals.