Charcot-Marie-Tooth Disease (CMT)(Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy (PMA)
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  • Definition - a neurological disorder that causes damage to the peripheral nerves, which carry signals from the brain and spinal cord to muscles, and relay sensations, such as pain and touch, to the brain and spinal cord from the rest of the body. There are several forms of CMT.

    Cause - defects in the genes for proteins found in axons, fibers that carry electrical signals between the brain and spinal cord and the rest of the body, or in the genes for proteins found in myelin, a coating on axons that insulates and nourishes them

    Onset - birth to adulthood, depending on form

    Symptoms - muscle weakness and wasting, some loss of sensation in the feet, the lower legs, the hands and the forearms; often, contractures (stiffened joints due to abnormal tightening of muscles and associated tissues); sometimes, curvature of the spine (scoliosis)

    Progression - generally slowly progressive

    Inheritance - autosomal dominant - inheritable through a faulty gene contributed by either parent; autosomal recessive - inheritable through a faulty gene contributed by each parent; and X-linked - inheritable through a gene on the X chromosome contributed by either parent

    Facts About Charcot-Marie-Tooth Disease and Dejerine-Sottas Disease