Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral neuropathies affecting motor and sensory nerves, making it one of the most common inherited neurological disorders. Over 80 different genetic mutations have been identified, resulting in heterogeneous presentations and progression rates. CMT1 (demyelinating form) involves abnormal myelin (the insulation around nerves); CMT2 (axonal form) involves damage to the nerve fibers themselves. The condition typically begins with progressive weakness and atrophy of distal leg muscles, causing foot drop and difficulty walking. Hand weakness develops later. Sensory loss progresses from distal to proximal. While CMT is progressive, progression is typically slow, and most individuals maintain ambulation throughout life, though some require assistive devices. Pain can be significant for some patients. The diagnosis requires clinical assessment, genetic testing, and sometimes nerve conduction studies or muscle biopsy.