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A 6-year-old boy with progressive diffuse weakness can no longer rise from a
sitting position unassisted. On examination, his calves are prominent. His
serum creatine kinase level is 2270 U/L (nl <235 U/L). The microscopic
appearance of his gastrocnemius biopsy specimen is shown. Diagnosis ?
inheritance pattern ? complications??: Duchenne muscular dystrophy; absent
dystrophin; x linked; complication - muscle + inflammation + replacement by
fat and fibrous CT. Death (occurs by 20 yo) from progressive muscular
weakness affecting diaphragn/myocardium
Dystrophin: intracellular protein linking sarcomeric contraction to the
extracellular matrix
Muscular dystrophies: do not present in childhood (except congenital);
Duchenne and Becker muscular dystrophy: X-linked mutation in dystrophin
gene; (becker is later eg 20 yo, onset then duchenne eg 6 yo) ; Pathogen dystrophin (amino end) links cytoskeleton inside the myofiber (actin) with the
basement membrane (carboxy end to the transmembrane protein) outside
the cell; defects cause membrane tears = calcium influx = myofiber
degeneration; Duchenne = complete absence of dystrophin; Becker is
reduced amount; INVX show myophagocytosis, muscular deg/renewal,
replacement with collagen and fatty tissue, muscle fires have variation ins
ize, in immunihistochemical staining - there will not be the brown coloured
dystrophin around the edge of the cells, Raised creatine kinase during 1st
decade but then falls as muscle mass lost; Duchenne Sx - normal at birth,