Charcot-Marie-Tooth disease (patient information)
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Synonyms and keywords: Hereditary motor and sensory neuropathy; peroneal muscular atrophy.
Overview
Charcot-Marie-Tooth disease is a group of disorders passed down through families that affect the nerves outside the brain and spine. These are called the peripheral nerves.
What are the symptoms of Charcot-Marie-Tooth disease?
Nerves that stimulate movement (called the motor nerves) are most severely affected. The nerves in the legs are affected first and most severely.
Symptoms usually begin between mid-childhood and early adulthood. They may include:
- Foot deformity (very high arch to feet)
- Foot drop (inability to hold foot horizontal)
- Loss of lower leg muscle, which leads to skinny calves
- Numbness in the foot or leg
- "Slapping" gait (feet hit the floor hard when walking)
- Weakness of the hips, legs, or feet
Later, similar symptoms may appear in the arms and hands, which may include a claw-like hand.
What causes Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth is one of the most common nerve-related disorders passed down through families (inherited). Problems in at least 40 genes cause different forms of this disease.
The disease leads to damage or destruction to the covering (myelin sheath) around nerve fibers.
Who is at highest risk?
Diagnosis
A physical exam may show:
- Difficulty lifting up the foot and making toe-out movements
- Lack of stretch reflexes in the legs
- Loss of muscle control and atrophy (shrinking of the muscles) in the foot or leg
- Thickened nerve bundles under the skin of the legs
A muscle biopsy or nerve biopsy may confirm the diagnosis. Nerve conduction tests are often done to tell the difference between different forms of the disorder.
Genetic testing is available for most forms of the disease.
When to seek urgent medical care?
Call for an appointment with your health care provider if there is persistent weakness or decreased sensation in the feet or legs.
Treatment options
There is no known cure. Orthopedic surgery or equipment (such as braces or orthopedic shoes) may make it easier to walk.
Physical and occupational therapy may help maintain muscle strength and improve independent functioning.
Where to find medical care for Charcot-Marie-Tooth disease?
Prevention of Charcot-Marie-Tooth disease
Genetic counseling and testing is advised if there is a strong family history of the disorder.
What to expect (Outlook/Prognosis)?
Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb, and pain can range from mild to severe. Eventually the disease may cause disability.
Possible complications
- Progressive inability to walk
- Progressive weakness
- Injury to areas of the body that have decreased sensation