Week 5.2 SMA

Question 1

what does SMA stand for

Answer 1

spinal muscular atrophy

Question 2

what is SMA

Answer 2

a recessive genetic, progressive, neuromuscular disorder that destroys motor neurons at the anterior horn

Question 3

does SMA affect cognition

Answer 3

no

Question 4

how may types of SMA are there

Answer 4

4

Question 5

is there a cure for SMA

Answer 5

no

Question 6

SMA is caused by a mutated or missing

Answer 6

survival motor neuron gene 1 (SMN1) on chromosome 5

Question 7

without SMN1, what happens

Answer 7

the body cannot make the SMN protein, and that leads to the loss of motor neurons and the loss of motor ability

Question 8

SMA type 1 AKA

Answer 8

Werding Hoffman

Question 9

type 1 onset

Answer 9

0-4 months

Question 10

SMA type 1 progression

Answer 10

rapid, they don’t achieve the ability to stand or walk

Question 11

SMA type 1 lifespan

Answer 11

1-10 years, many not past 2nd year (typically need mechanical ventilation or feeding tubes to prolong like)

Question 12

SMA type 2 onset

Answer 12

childhood, 6-12 months

Question 13

type 2 progression

Answer 13

initially progressive, then more slowly progressive, they can sit, but they cannot walk or stand

Question 14

lifespan type 2

Answer 14

into young adulthood

Question 15

type 3 AKA

Answer 15

kugelberg- Welander disease

Question 16

type 3 onset

Answer 16

1-10 years

Question 17

progression type 3:

Answer 17

can achieve stand and walk, and it is slowly progressive, with mild to moderate impairment

Question 18

lifespan type 3

Answer 18

near normal

Question 19

type 4

Answer 19

often identified with Charcot Marie tooth, and an adult onset.

Question 20

what is Spinraza for

Answer 20

for all types of SMA, it is a disease modifying drug, and an intrathecal injection

Question 21

Zolgensma

Answer 21

gene replacement therapy, 1 time IV injection, for kids under 2 with the specific mutation

Question 22

Risdiplam (Evrysdi)

Answer 22

disease modifying, oral liquid medication, daily, over 2 months old

Question 23

are there clinical trials out there for SMA

Answer 23

yes, showing that treatment has a greater effect if started early. May start with pre- symptomatic at 6 weeks or younger .

Question 24

what 4 assessments do we have for SMA

Answer 24

• 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

Question 25

what are the impairments and activity limitations for SMA

Answer 25

muscle weakness, fatigue, contract rues, difficulties with ADLs, family involvement, school, work…

Question 26

what will our PT interventions look like

Answer 26

family support and education 
developmental activities in infancy 
strengthening 
balance aerobic conditioning and fatigue levels 
orthotics 
promote independence and mobility