Spinal Muscular Atrophy Flashcards
explain the etiology of SMA
progressive autosomal recessive neuromuscular disorder
caused by mutation in SMN1 gene
most common SMA form in live birth populaions
Type 1, Type 2, Type 3
most prevalent form of SMA in living populations
Type 2, Type 3, Type 1
s/s of SMA
hypotonia
- progressive symmetric / proximal axial weakness
muscle groups most affected by SMA
LE > UE
- bulbar muscle weakness
- intercostal muscle weakness
breathing pattern often seen in those with SMA
paradoxical
bell-shaped chest
what does PT exam look like for a “non-sitter”
assess:
postural control / sitting tolerance
scoliosis
hip dislocation
chest deformities
contractures
motor development
what does PT exam look like for a “sitter”
Assess
postural control
foot and chest deformities
scoliosis and pelvic obliquity
hip dislocation
contractures
muscle weakness
what does PT exam look like for an “ambulator”
Assess
mobility
timed tests
measure endurance
muscle weakness
contractures
postural control
scoliosis
hip dislocation
primary interventions for “non-sitters”
stretching
positioning
mobility/exercises
pulmonary techniques
primary interventions for “sitters”
stretching
positioning
mobility/exercise
pulmonary techniques
explain difference in positioning interventions between non and sitters
non = seating systems, postural supports, custom w/c, custom sleeping systems
sitters = thoraco-lumbar orthoses, cervical bracing, supported standing
explain difference between mobility and exercise interventions for non vs sitters
non = assistive/adaptive technology, eye tracking devices, aquatic therapy
sitters = custom power wheelchair, concentric/eccentric exercise, aerobic/general conditioning
primary interventions for ambulators
exercise/activity programs
stretching/ROM
mobility
treatment goals for “non-sitters”
optimization of function
minimization of impairment
optimizing tolerance to various positions
treatment goals for “sitters”
prevent contractures/scoliosis
maintain/restore/promote function and mobility
