Definition - one of a group of diseases that cause problems with the tone and contraction of skeletal muscles
Cause - variety of genetic defects, each one affecting one of the filament proteins required for muscle tone and contraction
Onset - birth to adulthood
Symptoms - weakness of muscles needed for feeding and respiration, particularly in infantile-onset disease; generalized weakness and restricted mobility; spinal curvature may occur
Progression - infantile-onset cases are most severe; difficulties with feeding and respiration resulting from lack of muscle strength and tone may lead to death; affected children attain motor milestones slowly, might weaken further at puberty
Inheritance - autosomal dominant, or produced by a defective gene contributed by one parent; also autosomal recessive, or produced by defective genes contributed by both parents
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