Charcot-Marie-Tooth disease X-linked recessive 5

X-linked Charcot-Marie-Tooth disease type 5 is a rare genetic condition that affects the peripheral nerves. It usually presents in infancy or early childhood with problems in the muscles of the legs and feet, such as weakness and atrophy, often leading to a foot drop and gait disturbances. In addition to the muscle issues, people with this condition typically have profound, early-onset hearing loss and progressive optic neuropathy. This combination of symptoms makes it a distinct form of the Charcot-Marie-Tooth disease, and it is inherited in an X-linked recessive manner, meaning that females usually do not show symptoms.

Common symptoms include progressive muscle weakness and atrophy, especially in the lower legs, which can lead to difficulties with walking such as foot drop and gait disturbances. In addition, there is bilateral, severe sensorineural hearing loss that is present from early life, and a progressive loss of vision due to optic neuropathy.

This condition is caused by genetic mutations and is inherited in an X-linked recessive pattern. The gene involved is PRPS1. Because it is X-linked, most affected individuals are males, while females typically remain asymptomatic.

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.