Charcot-Marie-Tooth disease type 4H

Charcot-Marie-Tooth disease type 4H (CMT4H) is a form of Charcot-Marie-Tooth disease that affects the peripheral nerves. It is described as a demyelinating peripheral sensorimotor polyneuropathy, meaning that the protective covering (myelin) of nerves is affected and can lead to problems with movement and sensation. People with this condition may experience issues related to nerve function due to the degeneration of myelin. The condition is categorized under various identifiers including OMIM, Orphanet, and GARD which help in classifying and studying the disease further.

Information about symptoms is currently limited for this condition.

The known cause of Charcot-Marie-Tooth disease type 4H is linked to mutations in the FGD4 gene. The condition is inherited in an autosomal recessive pattern, which means that people need to inherit a mutation from both parents to develop the disorder.

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.