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duchene muscular dystrophy (dmd) - Coggle Diagram
duchene muscular dystrophy (dmd)
pathophysiology
caused by mutations in the dystrophin gene
dystrophin = protein that links cytoskeleton to actin filaments
connected muscle fibers to extracellular matrix
stabilizes sarcolemma (membrane surrounding skeletal muscle cell)
prevents contraction-induced damage
muscle fiber damage could result as sarcolemma could get tears as well as impaired calcium homeostasis impacts contractions
increased fat and connective tissue production can arise from muscle damage
signs/symptoms
difficulty walking or standing (gowers manoeuvre)
learning disabilities
cardiovascular issues
fatigue
breathing difficulties
walking on toes
treatment/management
no cure, just trying to improve quality of life
corticosteroid treatments
can slow the rate of muscle damage/strength
diagnosis
prenatal screening - in utero fetal muscle biopsy
histology
: white dystrophin rings wont show up along muscle fibers
histology
: increased adipose and CT deposition
genetics and epidemiology
x-linked recssive
impacts young boys more than girls