Charcot-Marie-Tooth Disease – Overview
Charcot-Marie-Tooth disease is a group of inherited neurological disorders that affect the peripheral nerves — the nerves outside the brain and spinal cord. Also known as CMT, cmt disease leads to progressive muscle weakness, particularly in the feet, lower legs, hands, and forearms, along with loss of sensation and foot deformities.
CMT affects approximately 1 in 2,500 people worldwide, making it one of the most common inherited neurological conditions. Despite its name, the disease is not related to tooth problems — it is named after the three physicians who first described it in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
The condition is caused by genetic mutations that affect the structure or function of peripheral nerves. These nerves control muscle movement and relay sensory information like touch, pain, and temperature. When these nerves become damaged or don’t function properly, muscles weaken and waste away over time.
Charcot-Marie-Tooth Disease
Most people with CMT disease start showing symptoms during adolescence or early adulthood, but the severity and age of onset can vary widely. Some individuals may live relatively unaffected lives, while others may require mobility aids and supportive therapies throughout their life.
Although there is no cure for CMT, treatment focuses on managing symptoms, improving mobility, and maintaining independence. Physiotherapy, occupational therapy, orthotic devices, and pain management are commonly used.
CMT disease progresses slowly, and while it is not considered life-threatening, it can significantly impact a person’s quality of life. Ongoing support and medical care can help manage its effects and maintain function.
Living with CMT
Living with CMT disease requires ongoing adaptation, but many individuals lead active, meaningful lives with the right support. Early diagnosis and a multidisciplinary approach — involving physiotherapists, neurologists, orthopaedic specialists, and occupational therapists — can significantly improve mobility and independence. Regular monitoring also helps manage complications such as joint deformities or pain.
The Importance of Awareness
Increasing public and clinical awareness of CMT disease is essential to reducing delays in diagnosis and treatment. Since CMT is a genetic condition, family screening and genetic counselling can also help at-risk individuals understand their likelihood of developing or passing on the condition. With continued research and advancements in supportive care, the outlook for people with CMT continues to improve.
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