Charcot-Marie-Tooth Disease

Excerpt

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathies, is a group of inherited motor and sensory peripheral neuropathies and the most common inherited neuromuscular disorder. CMT was first described as a clinical entity in 1886 by physicians Jean-Marie Charcot, Pierre Marie, and Howard Henry Tooth, who referred to it as "progressive muscular atrophy." CMT is heterogeneous in its clinical, electrophysiological, genetic, and pathological features. Based on neurophysiological findings, CMT was previously classified into the demyelinating form, CMT type 1 (CMT1), and the axonal form, CMT type 2 (CMT2). However, the increasing use of next-generation gene sequencing (NGS) technologies has altered the classification and diagnosis of CMT.

CMT is a nerve-length-dependent disorder characterized by slowly progressive foot deformities (most often pes cavus), sensory loss, weakness in the lower extremities, and reduced or absent deep tendon reflexes. Most individuals with CMT exhibit symptoms in the first or second decade of life, with an insidious onset of weakness that begins in the lower extremities and later involves the upper extremities. The presentation of CMT can overlap with other neurodegenerative disorders.