Muscular Dystrophy Flashcards
1
Q
Duchenne muscular dystrophy
A
1:10,000
Most severe at 20 years and onset at 5 years.
No dystrophin.
Primarily effects walking due to pelvic muscle.
Pseudohypertrophy of the calves!
Gowers sign is pahomnemonic where the child rises from sitting by climbing with there arms.
2
Q
Gowers sign
A
Dificulty rising from a seated positon due to DUCHENE MUSCULAR DYSTROPHY.
3
Q
Whats the difference between duchennes muscular dystrophy and the limb-girdle muscular dystrophies?
A
The limb girdle muscular dystrophies have the transmembrane protein mutation in dystrophin.
4
Q
what type of trait/inheritence is myotonic dystrophy?
A
Autosomal dominant trait!
Causes myotonia (sustained contraction)
5
Q
Best way to dianose a muscular dystrophy disease?
A
Muscular biopsy.
