Charcot-Marie-Tooth disease axonal type 2F

Charcot-Marie-Tooth disease axonal type 2F (CMT2F) is a type of peripheral nerve disorder that affects the long nerves controlling movement and sensation. It is inherited in an autosomal dominant pattern, meaning that the condition can be passed from one generation to the next. People with this condition often experience weakness in the lower limbs first, with the arms becoming affected after several years. The disease leads to problems with walking, and in some cases, there may be foot drop. The progression of the disease can vary, with early onset generally linked to a more severe expression of symptoms.

Common signs include symmetric muscle weakness that starts in the lower legs and may eventually affect the arms. There can also be reduced sensation, especially in the distal parts of the limbs, and lower tendon reflexes. Gait abnormalities are often observed, and in some cases, people may experience foot drop.

CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. This means that a single copy of the altered gene can cause the condition. Genetic factors explain the occurrence of this disorder in families.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

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