Early functional impairment predicts disease course in people with type II spinal muscular atrophy

Takeaway

  • People with lower Hammersmith Functional Motor Scale–Expanded (HFMSE) score at diagnosis of type II spinal muscular atrophy (SMA) are at increased risk of early onset scoliosis and need for non-invasive ventilation.

Why this matters

    Assessing functional impairment severity at first diagnosis can help to predict, and allow for pre-emptive management of, disease progression over time.