MarieTooth

Charcot-Marie-Tooth disease (CMT), also known as Marie–Tooth disease, is a group of hereditary motor and sensory neuropathies characterized by progressive distal muscle weakness and atrophy, sensory loss, and foot deformities. It is the most common inherited peripheral neuropathy and is typically lifelong.

CMT comprises multiple genetic subtypes. The most common form, CMT1A, arises from a duplication of the PMP22 gene and is usually autosomal dominant. Other forms involve mutations in genes such as MPZ, GJB1, or MFN2. Inheritance can be autosomal dominant, autosomal recessive, or X-linked.

Symptoms commonly begin in adolescence or early adulthood and include weakness and wasting in the feet and legs, pes cavus (high-arched feet), hammer toes, and gait disturbances. As it progresses, hand weakness, reduced reflexes, and sensory changes may occur.

Diagnosis uses clinical examination, nerve conduction studies to distinguish demyelinating from axonal forms, and genetic testing to identify specific subtypes.

There is no cure. Management is supportive and multidisciplinary, including physical and occupational therapy, ankle-foot orthoses, orthopedic procedures for foot deformities, pain control, and respiratory support when needed. Genetic counseling is often offered.

CMT progresses slowly; many individuals have normal life expectancy, but severity varies widely.

The disease was named for Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.