Charcot–Marie–Tooth disease
| Charcot-Marie-Tooth disease | |
|---|---|
| Other names | Charcot-Marie-Tooth neuropathy, peroneal muscular atrophy, Dejerine-Sottas syndrome |
| The foot of a person with Charcot-Marie-Tooth disease: the lack of muscle, a high arch, and claw toes are signs of this genetic disease. | |
| Pronunciation |
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| Specialty | Neurology, podiatry, orthopedics, physical medicine and rehabilitation |
| Symptoms | common: high-arched feet, hammertoe, foot drop, high-stepping gait, weakness, stiffness, and muscle wasting of lower legs, arm, and hands, and reduced tendon reflexes. sometimes: flat-arched feet, spinal deformities. |
| Usual onset | childhood – early adulthood |
| Duration | lifelong |
| Causes | family history (genetics) |
| Risk factors | family history (genetics) |
| Diagnostic method | genetic testing, nerve conduction study or electromyogram (EMG) |
| Differential diagnosis | muscular dystrophy |
| Treatment | management to maintain function |
| Prognosis | progressive |
| Frequency | prevalence: 1 in 2,500 |
Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder that affects the peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body.
This is the most common inherited neuropathy that causes sensory and motor symptoms of numbness, tingling, weakness and muscle atrophy, pain, and progressive foot deformities over time. In some cases, CMT also affects nerves controlling automatic bodily functions like sweating and balance. Symptoms typically start in the feet and legs before spreading to the hands and arms. While some individuals experience minimal symptoms, others may face significant physical limitations. There is no cure for CMT; however, treatments such as physical therapy, orthopedic devices, surgery, and medications can help manage symptoms and improve quality of life.
CMT is caused by mutations in over 100 different genes, which disrupt the function of nerve cells' axons (responsible for transmitting signals) and their myelin sheaths (which insulate and accelerate signal transmission). When these components are damaged, nerve signal transmission slows down or becomes impaired, leading to problems with muscle control and sensory feedback. The condition was discovered in 1886 by Doctors Jean-Martin Charcot and Pierre Marie of France and Howard Henry Tooth of the United Kingdom.
This disease is the most commonly inherited neurological disorder, affecting approximately one in 2,500 people.