Pediatric neuromuscular disease

1. What is pseudohypertrophy and where is it seen?
2. What is Gower's sign?
3. What gait patterns are seen in neuromuscular disease?
4. What is the genetics behind Duchenne's muscular dystrophy?

Answers:
1. Seen in Duchenne's and Becker's MD, caused by increase in fat and connective tissue.
2. From proximal weakness of pelvic girdle muscles. Children compensate for hip extension weakness by moving hands up thighs into upright stance.
3. Toe walking/lumbar lordosis from hip extension weakness, Trendelenberg gait, steppage gait.
4. Abnormality of Xp21 gene loci, resulting in dystrophin deficiency.