Charcot-Marie-Tooth disease type X
Patients with X-linked Charcot-Marie-Tooth disease develop a progressive distal weakness and atrophy that results from length-dependent axonal loss, which may progress to the point where assistive devices are required for ambulation. Weakness, atrophy, and sensory loss also develop in the hands, particularly in thenar muscles. Men are more affected than women; women are variably affected. It is caused by mutations in GJB1, the gene that encodes connexin32.
May. 30, 2021