1. What is the inheritance of Duchenne's/Becker's MD?
2. What is the clinical presentation of MD?
3. What is seen on muscle biopsy and labs in MD?
4. What is the presentation of myotonic dystrophy?
Answers:
1. X-linked.
2. Prox muscle weakness, calf pseudohypertrophy, cardiomyopathy, mental retardation, Gower's sign, increased lumbar lordosis, abnormal MSR.
3. Biopsy shows no dystrophin (Duchenne) or decreased (Becker). Increased CPK.
4. Autosomal dominant, presents as infant. Distal weakness, hatchet face (wasting of temporalis and masseter), frontal balding, poor vision, hypertrichosis, mental retardation. Biopsy shows type I fiber atrophy and type II fiber hypertrophy.
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