Causative and risk factors
Charcot-Marie-Tooth disease is cause due to the genetic mutation of the nerves that are responsible for sensory and motor functions especially of the arms and legs.
Clinical presentation
Charcot-Marie-Tooth disease gives rise to deformities like foot drop and claw toe. There is weakness in hand and forearm and a loss of sensation in arms and legs. Numbness and spasms may be present in the affected limb. There may be a loss of muscle bulk in lower limb giving it an inverted champagne bottle appearance. The feet may have high arches.
Diagnosis & Investigations
Based upon your symptoms, doctor will perform physical examination and order investigation to determine the diagnosis. During physical examination doctor will check for muscle strength, muscle mass, reflexes, range of motion and presence of foot deformities.
Electromyography is done to study the electrical activity of muscles. Nerve biopsy may be suggested.
Treatment
There is no cure for Charcot-Marie-Tooth. Treatment is symptomatic and supportive. Physical therapy and moderate exercise are recommended to maintain muscle strength and range of motion. Use of braces and splints is recommended to prevent fall and maintain everyday mobility. Severe cases of foot deformity can be corrected by surgery.
