Duchenne's Muscular Dystrophy Flashcards
pathology
a defect in the dystrophin gene involved in Ca transport causes muscle weakness
nonsense mutation/ frameshift mutation - no dystrophin at all
more severe than Becker
how does it present?
boys start to walk with difficulty standing and going up stairs - progressive muscle weakness
waddling gait
calf pseudohypertrophy from fat and fibrotic tissue
Gower’s sign - use arms to help stand up
scoliosis
by 10 - no longer walk
by 20 - progressive cardiac and resp failure with death
- dilated cardiomyopathy and arrhythmias - cardiac failure
- weak diaphragm - respiratory failure
how is it investigated?
raised serum creatinine phosphokinase
mutation in dystrophin: DNA test, western blot
abnormalities on muscle biopsy - stain for dystrophin
how is it managed?
physiotherapy
splintage
deformity correction
severe scoliosis – spinal surgery
