5. CMT Type X (CMTX): The X-linked Variant
CMTX, as its name implies, is caused by mutations on the X chromosome. Men, having only one X chromosome, are more severely affected, while women, with two X chromosomes, can be either mildly affected or just carriers.
CMTX combines symptoms typical of both CMT1 and CMT2. There’s muscle weakness, sensory loss, and foot deformities. However, many affected males also experience transient symptoms like muscle stiffness, tremors, or even temporary paralysis, often triggered by physical exertion or fever.
Apart from its unique genetic inheritance pattern, CMTX is the only CMT type to occasionally affect the central nervous system. Some individuals may exhibit mild to moderate hearing loss or even slight visual disturbances due to nerve issues.
CMTX management is multifaceted. Understanding potential triggers for transient symptoms and avoiding them is pivotal. Regular therapies, both physical and occupational, offer substantial benefits. Genetic counseling is valuable for potential carriers, elucidating the risks for future offspring. (5)
