Muscular dystrophy

 

a group of hereditary muscle diseases that weaken the muscles that move the human body. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue

Etiology

  • X linked recessive genetic disorder

 

Manifestations:

  • progressive skeletal muscle degeneration
  • pseudohypertrophy (muscle tissue replace with adipose and connective tissue)
  • muscle atrophy
  • muscle necrosis

 Posture and Movement:

Several forms of muscular dystrophy characterized by:

     

  1. rate of progression
  2. mode of inheritance
  3. muscle groups involved
  4. onset ageeg. Duchenne’s Muscular dystrophy

 

Pathophysiology

  • contractile muscular filament dysfunction
  • mutation in dystrophin, a cell membrane protein
  • dystrophin coordinates muscle filaments
  • dystrophin does not act to attach filaments together
  • loose, uncoordinated movement results in intramuscular trauma and inflammation
  • poor muscular repair and regeneration processes
  • muscle necrosis occurs
  • muscle replaced with adipose and connective tissue

 

Manifestations

  1. presents around 2 years of age
  2. muscle weakness
  3. muscle wasting – atrophy and metaplasia
  4. disability
  5. cardiac muscle affected
  6. smooth muscle not affected
  7. dyspnea as chest muscles are affected
  8. cardiac or respiratory complications may lead to death

Dx:

  • Hx
  • voluntary movement analysis
  • muscle biopsy
  • increased serum CK – skeletal marker subset analyzed

 

Tx:

  • no cure
  • comfort measures
  • increase fx
  • supportive and symptom management
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