Charcot-Marie-Tooth disease X-linked dominant 1

Charcot-Marie-Tooth disease X-linked dominant 1 is a genetic condition that affects the peripheral nerves responsible for movement and sensation. It is passed down in an X-linked pattern, meaning that the gene mutation is located on the X chromosome. In people with this condition, there is a problem with the gap junction beta-1 protein due to changes in the GJB1 gene. This condition is noted for causing moderate to severe motor and sensory nerve problems in males, while females often have mild or no symptoms. The variability in how the condition affects individuals is a key feature of this neuropathy.

People with this condition, especially males, may experience significant difficulties with movement and sensation. These symptoms include problems with muscle strength and feeling in the limbs. Females tend to have milder symptoms or may not notice any symptoms at all.

This condition is caused by mutations in the GJB1 gene, which provides instructions for making a protein called gap junction beta-1. This protein is important for the function of nerve cells. Because it is inherited in an X-linked manner, the effects can vary between males and females.

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.