Spinal Muscular Atrophy

Question 1

discuss SMA

Answer 1

loss of anterior horn cells

inherited - chromosome 5q13

Question 2

discuss pathophysio of SMA

Answer 2

survival motor neuron - makes proteins that stabilizes the nerve

lack of protein will affect the alpha motor neuron

Question 3

discuss SMA 1

Answer 3

werdnig-hoffman

autosomal recessive

< 3 yrs life expectancy - poor

seen at time of birth - dec fetal movements

Question 4

SMA 1 ssx

Answer 4

severe hypotonia and weakness - floppy

head lag, frog leg

feeding diff

poor suck, weak cry, poor clearing

absent DTR

respi function

fasciculations

Question 5

discuss SMA 2

Answer 5

more benign and MC

presents later - 1 yo

Question 6

ssx of SMA 2

Answer 6

normal neonatal - indep sitting

failure to achieve indep standing and amb

symm weakness, proximal>distal, LE>UE

can still be productive

Question 7

discuss SMA 3

Answer 7

slowly progressive weakness and atrophy of proximal and girdle

onset is 2-17 yo, MALES

death usually by 12 yo

chromosome 5q

Question 8

ssx SMA 3

Answer 8

symm proximal weakness and atrophy LE>

waddling and gower’s gait

w/c by 4th decade

dec DTR

intact sensation

Question 9

scolio is prevalent in

Answer 9

SMA 1 and 2

Question 10

hip disloc is common in

Answer 10

pelvic obliquity needs surgey

SMA 1 and 2

Question 11

discuss pulmo rehab in SMA

Answer 11

SMA 1 - intubation by 1 yo and mech vent by 12 yo

SMA 2 - declines by 13 yo