Receive
e-mail news, tips and updates from MDA or ask us
a quick question.
Charcot-Marie-Tooth Disease (CMT)
(Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or
Peroneal Muscular Atrophy (PMA))
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); 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
