Spinal muscular atrophy SMA

Question 1

SMA Health Condition

Answer 1

Autosomal recessive genetic condition
Deletion of SMN1 gene
Deficiency in SMN protein
Newborn screening in USA

Question 2

SMA BSF IMPAIRMENTS

Answer 2

Profound global weakness
Low tone
Decreased or absent reflexes

Question 3

Medications for SMA

Answer 3

SMN Protein restoration
- Increasing: (Nusinersen, risdiplam)
- Gene Replacement: (Zolgensma)
Myostatin Inhibition
Antisense oligonucleotides (Spinraza)
Small molecule drug (Evrysdi)

Question 4

SMA Diagnosis specific T&M

Answer 4

Functional Ability Scale for Evolving SMA (EVOLVE-SMA)
Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorder (CHOP INTEND)
Hammersmith Functional Motor Scale (HFMSE)
Revised upper limb module for SMA
SMA functional composite

Question 5

SMA Interventions

Answer 5

Early WB
Contracture prevention
Bracing
Aquatic exercise
Exercise tailored to sitting and walking skills

Question 6

SMA Special Considerations

Answer 6

Contractures are common and often early in the disease
Spinraza requires a lumbar puncture every 4 months
Zolgensma is a one-time IV infusion
Everysdi is a daily oral med

Question 7

SMA Movement System Diagnoses

Answer 7

Force Production Deficit

Question 8

SMA Signs & Symptoms

Answer 8

Tongue fasciculations
Profound weakness
Vertical suspension slip through
Low tone
Proximal weakness > Distal weakness
Decreased or absent reflexes
Lordotic waddling gait
Alert & Interactive

Question 9

SMA Types

Answer 9

Question 10

Diagnosis of SMA

Answer 10

50 states have newborn screening
Confirmatory genetic testing if baby is found to be NBS+

Question 11

SMA Prognosis

Answer 11

SMN copy number correlated with prognosis
Median age for death or ventilatory support is 13.5 months