Charcot-Marie-Tooth disease X-linked dominant 1

Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.

What is Charcot-Marie-Tooth disease X-linked dominant 1?

Charcot-Marie-Tooth disease X-linked dominant 1 is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have Charcot-Marie-Tooth disease X-linked dominant 1, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with Charcot-Marie-Tooth disease X-linked dominant 1

Distal lower limb muscle weaknessDistal muscle weaknessDysphagiaHand muscle weaknessHand tremorSensorineural hearing impairmentTremor

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.