SMA Flashcards
1
Q
Px
A
Floppy/weak limbs Movem difficulty eg sit, crwal, walk Tremors Scoliosis Swallow probs Breathing diffic
2
Q
types
A
1- under 6/12, most sev, life expec few yrs
2- 7-18/12, less sev
3- over 18/12, least sev in kids
4- adult, very mild
3
Q
mx
A
Physio and OT
Feeding tubes and dietician input
Braces or surgery for jnt probs
S+L
4
Q
Ix
A
Genetic test
EMG
Muscle biop
5
Q
Mode of inheritance
A
Autosomal recessive
