Charcot–Marie–Tooth Disease

Charcot–Marie–Tooth disease is a group of hereditary motor and sensory neuropathies characterized by distal muscle weakness, sensory loss, and foot deformities. Etiology involves mutations affecting myelin or axonal integrity, with autosomal dominant, recessive, or X-linked inheritance. Clinical features include pes cavus, hammer toes, distal atrophy, and gait disturbances. Diagnosis is based on family history, clinical examination, nerve conduction studies, and genetic testing. Management is supportive, including orthotics, physiotherapy, and surgical correction of deformities; prognosis is chronic but slowly progressive, with normal life expectancy in most cases.