X-linked Charcot–Marie–Tooth Disease

This hereditary neuropathy affects motor and sensory peripheral nerves due to mutations in the GJB1 gene encoding connexin-32. Clinical features include distal limb weakness, sensory loss, pes cavus, and areflexia. Pathophysiology involves demyelination and axonal degeneration. Diagnosis relies on clinical examination, nerve conduction studies, and genetic testing. Management is supportive with physical therapy, orthoses, and symptomatic care; prognosis is generally slowly progressive.