Congenital Muscular Dystrophy (CMD)

Definition - A class of muscular dystrophies that show themselves at or near birth. Muscular dystrophies in general are a group of genetic, degenerative diseases primarily affecting voluntary muscles.

Cause - Genetic mutations affecting some of the proteins necessary for muscles and sometimes for the eyes and or brain.

Onset - At or near birth.

Symptoms - Generalized muscle weakness with possible joint stiffness or looseness. Depending on the type, CMD may involve spinal curvature, respiratory insufficiency, mental retardation or learning disabilities, eye defects or seizures.

Progression - Varies with type; many are slowly progressive; some shorten life span.

Inheritance - Autosomal recessive or autosomal dominant; these diseases are sometimes inherited through both parents and sometimes inherited from one parent . They can also occur spontaneously because of a newly developed genetic flaw (mutation).

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