Duchenne Muscular Dystrophy Flashcards
1
Q
define Duchenne muscular dystrophy
A
X-linked recessive disease with a mutation in the dystrophin gene on the X-chromosome
2
Q
what is the dystrophin protein involved in?
A
actin
3
Q
what do boys present with?
A
developmental delay muscle weakness toe walking exaggerated lumbar lordosis calf hypertrophy wheelchair bound by 10-20 most die in their 20s due to involvement of respiratory and cardiac muscles
4
Q
diagnosis
A
raised CK
genetic testing (carrier testing done too)
EMG
muscle biopsy
5
Q
signs of muscle weakness
A
Gower’s sign (arms used to compensate pelvic muscle weakness when rising)
6
Q
what causes toe walking?
A
Achilles tendon contractures
7
Q
what other condition also has calf hypertrophy?
A
becker’s (this also has proximal limb wasting)
8
Q
management
A
low impact exercise, physiotherapy, physical aids, OT
breathing assistance, feeding tube
heart function
steroids
