What is Charcot Marie Tooth Disease?
Charcot-Marie-Tooth (CMT) disease is a common inherited neuromuscular condition that describes a group of nerve disorders affecting movement and sensation in the arms and legs.
Charcot-Marie-Tooth is named after the three doctors who discovered it. CMT disease does not cause dental symptoms.
What are Symptoms of Charcot Marie Tooth Disease?
Symptoms of Charcot-Marie-Tooth (CMT) disease usually appear within the first two decades of life and include:
- Weakness and diminished sensation in the lower legs and feet
- Can result in ankle sprains and falls
- Hands and wrists may also be affected by weakness and diminished sensation
- Poor finger control
- Poor handwriting
- Difficulty using buttons and zippers
- Clumsiness handling small objects
- Foot problems
- High arches
- Foot drop
- Calluses, ulcers, cellulitis, and lymphangitis
- Numbness in the foot/inability to feel where the foot is placed
- May result in clumsiness, tripping, and falls
- Lower legs that are very narrow at the bottom and wider at the calf (like an upside-down champagne bottle)
- Musculoskeletal and nerve pain
- Muscle cramping
- Late-developing scoliosis and kyphosis (abnormal curves in the spine)
- Impotence (occasional)
What Causes Charcot Marie Tooth Disease?
Charcot-Marie-Tooth (CMT) disease is a hereditary disorder caused by genetic mutations passed on from one or both parents. These abnormal genes affect the nerves in the legs, feet, arms, and hands.
How is Charcot Marie Tooth Disease Diagnosed?
If symptoms of Charcot-Marie-Tooth (CMT) disease are present, genetic testing to look for the genes that cause CMT is performed to make the diagnosis.
Other tests used to diagnose Charcot-Marie-Tooth (CMT) disease include:
- Magnetic resonance imaging (MRI) of lower limb muscles
- Electromyography (EMG)
- Nerve conduction studies
- Nerve biopsy (rarely used)
What is the Treatment for Charcot Marie Tooth Disease?
Charcot-Marie-Tooth (CMT) disease cannot be cured. Treatment is aimed at improving the quality of life for patients. There are no medications to slow or reverse the progression of the illness.
The main treatment for Charcot-Marie-Tooth (CMT) disease includes working with an occupational or physical therapist to help patients perform daily tasks and to gain more control of their legs and arms. Orthotics may be used to treat foot drop or to accommodate bony foot deformities.
Surgery is often used to correct deformities:
- Orthopedic surgery to correct severe pes cavus deformities, scoliosis, and other joint deformities.
- Soft-tissue procedures (plantar fascia release, tendon release or transfer)
- Osteotomy (metatarsal, midfoot, calcaneal)
- Joint-stabilizing procedures (triple arthrodesis)
What are Complications of Charcot Marie Tooth Disease?
Complications of Charcot-Marie-Tooth (CMT) disease include:
- Skin breakdown or burns
- Nonhealing foot ulcers
- Bony deformities on both feet
- Increased risk of complications during delivery
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