Week 5.2 SMA Flashcards
what does SMA stand for
spinal muscular atrophy
what is SMA
a recessive genetic, progressive, neuromuscular disorder that destroys motor neurons at the anterior horn
does SMA affect cognition
no
how may types of SMA are there
4
is there a cure for SMA
no
SMA is caused by a mutated or missing
survival motor neuron gene 1 (SMN1) on chromosome 5
without SMN1, what happens
the body cannot make the SMN protein, and that leads to the loss of motor neurons and the loss of motor ability
SMA type 1 AKA
Werding Hoffman
type 1 onset
0-4 months
SMA type 1 progression
rapid, they don’t achieve the ability to stand or walk
SMA type 1 lifespan
1-10 years, many not past 2nd year (typically need mechanical ventilation or feeding tubes to prolong like)
SMA type 2 onset
childhood, 6-12 months
type 2 progression
initially progressive, then more slowly progressive, they can sit, but they cannot walk or stand
lifespan type 2
into young adulthood
type 3 AKA
kugelberg- Welander disease
type 3 onset
1-10 years
progression type 3:
can achieve stand and walk, and it is slowly progressive, with mild to moderate impairment
lifespan type 3
near normal
type 4
often identified with Charcot Marie tooth, and an adult onset.
what is Spinraza for
for all types of SMA, it is a disease modifying drug, and an intrathecal injection
Zolgensma
gene replacement therapy, 1 time IV injection, for kids under 2 with the specific mutation
Risdiplam (Evrysdi)
disease modifying, oral liquid medication, daily, over 2 months old
are there clinical trials out there for SMA
yes, showing that treatment has a greater effect if started early. May start with pre- symptomatic at 6 weeks or younger .
what 4 assessments do we have for SMA
- Hammersmith Infant Neurological Exam (HINE): infants 2-24 months
- Children’s hospital of Philly infant test of neuromuscular disorders (CHOP_INTEND): 1-37 months
- Hammersmith Functional motor scale (HFMSE): older than 24 months
- Revised upper limb module (RULM): kids and adults
