Duchenne's Muscular Dystrophy Flashcards
1
Q
what is ‘muscular dystrophy’?
A
an umbrella term used for genetic conditions that cause progressive muscle weakness & wasting
2
Q
main types?
A
- Duchenne’s MD
- Myotonic dystrophy
3
Q
Mx of muscular dystrophy?
A
- no cure
- treatment is supportive
- OT
- physio
- medical devices
4
Q
aetiology of DMD?
A
X-linked recessive mutation of dystrophin gene
5
Q
sign of DMD?
A
- proximal muscle weakness
- gover’s sign - to stand up, child rolls onto all fours & ‘climbs up legs’
- muscle wasting
6
Q
Ix of DMD?
A
- raised CK
- abnormal EMG
- genetic testing
7
Q
prognosis of DMD?
A
life exectancy 25-35
8
Q
Mx of DMD?
A
- oral steroids
- slow muscle weakness progression
- creatine
- improve muscle strength
9
Q
when does myotonic dystrophy present?
A
in adulthood
10
Q
Presentation of myotonic dystrophy?
A
- progressive muscle weakness
- prolonged muscle contraction
- unable to let go after shaking someone’s hand
- cataracts
- arrhythmias
