Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b is a genetic condition that affects the nerves. It is caused by changes in the MFN2 gene and is inherited in an autosomal recessive manner. This means that a person must have changes in both copies of the gene to develop the condition. This type of Charcot-Marie-Tooth disease is more severe and has an earlier onset compared to other sub-types such as Charcot-Marie-Tooth disease type 2A2A. The condition affects nerve cells and can lead to issues with muscle strength and function. Information provided here is based on trusted sources.

Information about symptoms is currently limited for this condition.

This condition is caused by mutations in the MFN2 gene, which produces a protein called mitofusin-2. The genetic changes can occur in a compound heterozygous or homozygous pattern, which means that both copies of the gene are affected. The affected protein plays a role in nerve cell function, and changes can lead to the nerve problems seen in this disease.

Information about treatment options is currently limited for this condition.

People with this condition often experience a more severe course and an earlier onset than seen in some other forms of Charcot-Marie-Tooth disease. However, detailed information about long-term outlook and quality of life is currently limited for this condition.

Information about current research is currently limited for this condition.