Neuromuscular Scoliosis
A 4-year-old girl with spinal muscular atrophy (SMA) type II is referred for progressive scoliosis. She achieved sitting independently but never walked. Her parents note she has become increasingly tired and has difficulty coughing. Pulmonary function tests show FVC of 45% predicted. Spine radiographs demonstrate a 55-degree thoracolumbar C-shaped curve. The neurology team confirms she is receiving nusinersen (Spinraza) intrathecal injections. Regarding the genetics and pathophysiology of spinal muscular atrophy:
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SMA is an autosomal recessive disorder caused by homozygous deletion or mutation of the survival mot...
The SMN2 gene is a nearly identical copy of SMN1 that produces predominantly truncated, unstable SMN...
SMA is an X-linked recessive disorder affecting only males; the disease is caused by mutations in th...
SMA is classified into types based on age of onset and maximum motor function achieved: Type I (Werd...
Disease-modifying therapies for SMA include antisense oligonucleotides (nusinersen) that modify SMN2...
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