SMA Flashcards
SMA overview
spinal muscular atrophy
autosomal 5 SMA most common type
deficiency of motor neuron protein (SMN) in SC
SMN (survival of motor neuron)
4 types of 5 SMA- earlier onset= worse function
Type 1 5SMA
aka: infantile or Werdnig-Hoffman’s
birth to 6 months
Symptoms type 1 SMA
generalized weakness worse proximally weak cry breathing distress hypotonia (LMN) decreased swallowing/sucking Can't lift or turn head; can smile and move eyes
Presentation type 1 SMA
chest is depressed
excessive drooling
inability to suck
child is alert and can smile
Prognosis type 1 SMA
typically death by age 1
respiratory complications
PT management type 1 SMA
positioning, ROM, skin inspection, teach parents handling and carrying skills (floppy baby), postural drainage and suctioning instructions, physiologic flexion- everything midline, supportive boundaries (pillows, bolsters) to position baby
Type 2 SMA
aka: chronic werdnig hoffman’s
onset 7-18 months: accomplish initial milestones
clinical course is variable/unpredictable
prognosis- adolescence through 30s-40s
can’t stand/walk
type 2 SMA symptoms
proximal weakness like type 1 unable to stand/walk unaided scoliosis/kyphosis hip contractures normal intelligence
PT management type 2 SMA
ORM, scoliosis management (Sx frequent), respiratory exercises, standing frame in school, power WC with adaptive seating, keep as active as possible, order DME as needed
Type 3 SMA
onset after 18 months- early adulthood often have difficulty walking/standing variable level of weakness normal lift expectancy eventually lose ability to walk
Type 4 SMA
less common, adult onset
slow progression
able to walk during adult years
normal life expectancy
