CharcotMarieToothdiagnosen

Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral neuropathies characterized by progressive distal muscle weakness and sensory loss, most often in the legs and feet. The condition is named after Jean-Martin Charcot, Pierre Marie, and Howard Tooth. CMT is among the most common inherited neurologic disorders, with an estimated prevalence of about 1 in 2,500 people.

CMT includes several genetic forms, broadly divided into demyelinating (CMT1) and axonal (CMT2) types. Most cases are autosomal dominant, with autosomal recessive and X-linked forms also described. A common form is CMT1A, caused by duplication of the PMP22 gene. Other implicated genes include MPZ, MFN2, GARS, and EGR2. The disease causes either demyelination or axonal degeneration of peripheral nerves, leading to slowed conduction velocities (CMT1) or reduced nerve amplitudes (CMT2).

Symptoms typically begin in adolescence or early adulthood and include weakness and atrophy of distal leg muscles, foot deformities such as high arches and hammer toes, and a steppage gait. Hand weakness and sensory changes may occur. Diagnosis is based on clinical evaluation, nerve conduction studies, and genetic testing; nerve biopsy is rarely required.

Management is supportive. A multidisciplinary approach includes physical and occupational therapy, ankle-foot orthoses, orthopedics for foot deformities, and pain management. Genetic counseling is advised. There is no cure, but many individuals maintain mobility for decades, and research is exploring targeted therapies and gene-specific approaches.

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