Duchenne's Muscular Dystrophy

Question 1

pathology

Answer 1

a defect in the dystrophin gene involved in Ca transport causes muscle weaknessnonsense mutation/ frameshift mutation - no dystrophin at all more severe than Becker

Question 2

how does it present?

Answer 2

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

Question 3

how is it investigated?

Answer 3

-Raised serum creatinine, -Phosphokinase mutation in dystrophin:
-DNA test,
-Western blot abnormalities on muscle biopsy - stain for dystrophin

Question 4

how is it managed?

Answer 4

physiotherapysplintagedeformity correctionsevere scoliosis – spinal surgery