Description Charcot-Marie-Tooth...
Description
Charcot-Marie-Tooth disease is an inherited disorder of the nerves of the arms and legs. Over time, the disease causes decreased sensation in the affected limbs and muscle loss. Symptoms usually begin in childhood or early adulthood. Foot deformities such as high arches (pes cavus) and hammer toes are common and characteristic of the disease. Over time, muscle weakness may cause clumsiness and make it difficult to walk.
Symptoms
Symptoms include high arches, hammer toes, clumsiness, difficulty walking, decreased sensation of the hands and feet and occasionally pain in the affected limbs.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. Testing often includes a nerve conduction study and/or electromyography (EMG). A biopsy of a small nerve in the leg may be needed to confirm the diagnosis. Blood may be drawn for genetic testing.
Workup:
A history and physical exam will be performed. Testing often includes a nerve conduction study and/or electromyography (EMG). A biopsy of a small nerve in the leg may be needed to confirm the diagnosis. Blood may be drawn for genetic testing.
Treatment
Treatment varies based on the severity of disease. There is currently no known treatment to reverse or halt the progression of disease. Physical and occupational therapy are frequently utilized. Medications are used to decrease nerve pain, such as nonsteroidal anti-inflammatory drugs (NSAIDs), tricyclic antidepressants and gabapentin. Surgery may be considered to correct joint deformities.