Charcot-Marie-Tooth disease axonal type 2L

Charcot-Marie-Tooth disease axonal type 2L (CMT2L) is a rare inherited nerve disorder that affects the peripheral nerves, which are responsible for movement and sensation. It belongs to a group of conditions known as axonal Charcot-Marie-Tooth diseases, in which the damage is mainly to the nerve fibers (axons). In the only reported family, the disease usually begins between the ages of 15 and 33 years. People with this condition have a gradual onset of symptoms that include muscle weakness, especially in the legs, and sensory changes. The condition progresses slowly over time.

Common symptoms include symmetric weakness in the distal parts of the legs and sometimes the hands, reduced or absent tendon reflexes, and sensory loss in the lower legs. Additionally, many people experience a high arch in the feet, known as pes cavus.

This condition is caused by mutations in the HSPB8 gene and follows an autosomal dominant inheritance pattern. This means that a change in just one copy of the gene can lead to the development of the disorder.

Information about treatment is currently limited for this condition.

The progression of Charcot-Marie-Tooth disease axonal type 2L is described as slow. While the condition leads to gradual weakness and sensory changes, the slow progression suggests that many people may experience a longer period before more severe symptoms develop.

Information about current research and future directions is currently limited for this condition.