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Dejerine-Sottas Disease (DS)
(Also known as CMT Type 3 or Progressive Hypertrophic
Interstitial Neuropathy)
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.
Cause - defects in the genes for proteins found in myelin, an insulating
and nourishing coating on axons, fibers that carry electrical signals between
the brain and spinal cord and the rest of the body
Onset - infancy
Symptoms - muscle wasting and severe weakness, some loss of sensation in
the feet, the lower legs, the hands and the forearms; commonly, curvature of
the spine (scoliosis) and ataxia (lack of coordination and balance); often,
contractures (stiffened joints); slow acquisition of motor milestones; some
children with it never walk
Progression - severity and progression vary
Inheritance - autosomal dominant - inheritable through a faulty gene
contributed by either parent; autosomal recessive - inheritable through a
faulty gene contributed by each parent
