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Charcot-Marie-Tooth Disease (CMT)


What is Charcot-Marie-Tooth disease type X (CMTX)?

CMTX is a subtype of CMT, a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs.

What are the symptoms of CMTX?

CMTX has many of the same symptoms of CMT1 and CMT2, including muscle weakness and atrophy, and changes in sensation, mostly in the feet, lower legs, hands and forearms.

Because of its linkage to the X chromosome, CMTX often affects males more severely than females. See Signs and Symptoms and Causes/Inheritance for more.

What causes CMTX?

CMTX is caused by mutations in the gene for connexin 32, which normally codes for a protein located in myelin, the insulating sheath that surrounds nerve fibers.

What is the progression of CMTX?

CMTX has its onset in childhood or adolescence, and progression is generally slow.

What is the status of research on CMT?

CMT research is focused on exploring the effects of defects in genes related to the peripheral nervous system and devising strategies to combat these effects.

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