From the Research
Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder that affects the peripheral nerves, causing muscle weakness, atrophy, and sensory loss primarily in the feet, legs, hands, and arms. This condition is characterized by a slow onset, typically presenting in childhood, and progressing from the lower limbs to more proximal muscles 1. The disease results from genetic mutations affecting proteins involved in the structure and function of peripheral nerves, leading to the gradual degeneration of the myelin sheath or axons that transmit signals between the brain and extremities.
Key Characteristics of CMT
- Inherited neurological disorder
- Affects peripheral nerves
- Causes muscle weakness, atrophy, and sensory loss
- Primarily affects the feet, legs, hands, and arms
- Slow onset, typically presenting in childhood
Management and Treatment
There is no cure for CMT, but management focuses on maintaining function and preventing complications. Treatment typically includes physical therapy to preserve muscle strength and prevent contractures, occupational therapy to help with daily activities, and orthotic devices like ankle-foot braces to improve stability and walking 2, 3. Pain management may involve medications such as gabapentin, pregabalin, or amitriptyline for neuropathic pain. Regular monitoring by a neurologist is essential, as is genetic counseling for family planning. Some patients benefit from orthopedic surgery to correct foot deformities like high arches or hammertoes.
Recent Developments in Treatment
Recent research has highlighted the potential of disease-modifying therapies, including gene silencing, gene addition, and gene editing, although most treatments that reach clinical trials are drug treatments 4. Currently, only gene therapies for CMT2S have reached the clinical trial stage.
Quality of Life and Prognosis
The disease progresses slowly and varies in severity, but most people maintain a normal lifespan. CMT results from genetic mutations affecting proteins involved in the structure and function of peripheral nerves, leading to the gradual degeneration of the myelin sheath or axons that transmit signals between the brain and extremities. With proper management and treatment, individuals with CMT can improve their functional status and walking stability, and maintain a good quality of life 3.