Charcot-Marie-Tooth disease axonal type 2C

Charcot-Marie-Tooth disease axonal type 2C is a rare inherited disorder affecting the peripheral nerves, which help control movement and sensation. This condition is a form of axonal Charcot-Marie-Tooth disease and is inherited in an autosomal dominant pattern. It is characterized by weakness in the hands and feet, along with complications that may include issues with vocal cords, respiratory muscles, and sensorineural hearing loss. The age of onset for this condition can range from infancy up to the sixth decade of life.

People with this condition may experience weakness in the muscles of the hands and feet. They can also have issues such as vocal cord abnormalities, difficulties with breathing due to respiratory muscle impairment, and sensorineural hearing loss.

This condition is caused by mutations in the TRPV4 gene and follows an autosomal dominant pattern of inheritance. This means that a change in just one copy of the gene can cause the disease.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.