more about Charcot-Marie-Tooth Disease
Also known as
Hereditary sensorimotor neuropathies
Description
Charcot-Marie-Tooth disease is a type of peripheral Neuropathy, characterized by a slowly progressive weakness and wasting of the muscles in the upper and lower extremities.
Symptoms
- Charcot-Marie-Tooth disease causes destruction of the peripheral nerves.
There are two main types: The onset of type I occurs in early adulthood.
In type II, inheritance is autosomal recessive (the onset is in early childhood). In both types, the nerves of both lower limbs are commonly affected and symptoms of the hand may appear in later stage of disease.
- Slowly progressive symmetric muscle weakness and wasting of feet and legs, characterized by foot drop, foot deformity (high arch and toe flexion deformity), gait difficulty and “stork leg” appearance due to the wasting of both lower leg muscles
- Loss of sensation and numbness in the toes and lower legs
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- Muscle weakness and numbness of the hands in the later stages
Cause
- The specific cause is unknown.
- Charcot-Marie-Tooth disease can be inherited with both autosomal dominant or recessive patterns.
- Autosomal dominant inheritance is the most common pattern.
- There are also sporadic cases without a family history of Charcot-Marie-Tooth disease.
How the diagnosis is made
- Nerve conduction test and Electromyography
- Muscle biopsy
- Nerve biopsy confirms the diagnosis
Treatment
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- There is no known cure
- Physical therapy to minimize the loss of muscle power and maintain functional independence
- Proper shoes or orthopaedic surgery for foot deformities
- Proper footcare to prevent Foot Ulcers that results from sensory loss and foot deformity
Prognosis
The expected life span is normal, but the slow and progressive muscle weakness causes eventual disability, including gait difficulty, foot deformity and deformities of spine curvature (scoliosis).