What is Charcot-Marie-Tooth disease type 2 (CMT2)? CMT type 2 (CMT2) is a subtype of CMT that is similar to CMT1 but is less common. CMT2 is typically inherited in an autosomal dominant pattern but

CMT2 patients show little if any slowing in their nerve conductions, and biopsies show the loss of myelinated axons but little segmental demyelination/remyelination. The clinical presentation is similar to Type 1: distal weakness, muscle atrophy, sensory loss and foot deformities.

CMT2 degenerates axons communicating to muscles and conveying information about sensation. CMT2 is a slow, progressive disorder. Over time, muscle weakness and numbness will extend further up the legs and begin to affect the arms and hands.

2024年6月22日 · CMT2: CMT2 represents 15% to 30% of cases and is characterized by axonal pathology, an autosomal dominant mode of inheritance, onset typically in the second or third decade, distal motor weakness, and normal or slightly slowed NCVs (>40 m/s).

2021年11月19日 · Charcot-Marie-Tooth disease type 2 (CMT2) is a type of CMT whose genetic defects, or mutations, disrupt the structure and function of axons — the long projections of nerve cells that conduct signals to the next nerve cell or muscle cell.

2025年1月6日 · CMT2 affects the axon of peripheral nerve cells and is less common than CMT1. There are more than a dozen types of CMT2, linked to specific gene changes. In addition to the more typical symptoms of CMT, some types of CMT2 can cause speech or breathing problems due to nerve damage.

2023年3月8日 · Charcot-Marie-Tooth disease is an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms.