Definition of "Muscular dystrophy"

Last modified: 3 days



Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion (walking or movement).

Sx
  • It is characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue
  • It involves growing progressively weaker, losing the ability to walk, and dying at an early age
  • Most types are multi-system disorders with manifestations in body systems, including the heart, GI system, nervous system, endocrine glands, eyes and brain
  • Normal intellectual, muscular, behavioral, bowel and sexual functions is noticed in individuals with other forms of muscular dystrophy and like conditions
  • Affected patients with susceptible intellectual impairment are Dx through molecular characteristics, but not through problems associated with disability
  • However, 1/3rd of patients who are severely affected may have cognitive impairment, behavioral, vision and speech problems
Classification
  • The most common and severe form of the disease is Duchenne muscular dystrophy, named after the French neurologist Dr Guillaume Duchenne
  • Other major forms include Becker, limb-girdle, congenital fascioaphulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss muscular dystrophy
  • Duchenne and Becker muscular dystrophies are caused by a mutation of a gene located on the X chromosome, predominantly affecting males, although females can sometimes have severe Sx as well
  • Several other muscular dystrophy-like conditions have also been identified

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Definition of Muscular dystrophy | Autoprac


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