Charcot-Marie-Tooth disease axonal type 2X

Charcot-Marie-Tooth disease axonal type 2X is a form of Charcot-Marie-Tooth disease that arises due to a mutation in the SPG11 gene. People with this condition experience nerve damage that is linked to genetic changes. This disorder falls under the broader group of inherited peripheral neuropathies. The condition is identified in clinical databases such as OMIM, Orphanet, and GARD, which provide additional details about its genetic background and classification. While the specifics of how the disease affects individuals can vary, this summary aims to provide basic information about its genetic cause and classification.

Information about symptoms is currently limited for this condition.

Charcot-Marie-Tooth disease axonal type 2X is caused by a mutation in the SPG11 gene. This genetic alteration is the underlying factor that leads to the disease. The condition is inherited in an autosomal recessive manner, meaning that mutations in both copies of the gene are typically required for the condition to manifest.

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.