Long-term progression in type II spinal muscular atrophy: A retrospective observational study
Neurology® Oct 04, 2019
Mercuri E, Lucibello S, Pera MC, et al. - In this retrospective observational study involving 73 patients, aged 2.6 to 25 years, researchers reported the long-term progression in a cohort of patients with type II spinal muscular atrophy (SMA) evaluated with the Hammersmith Functional Motor Scale–Expanded. Twenty-eight of the 73 were first evaluated before the age of 5 years and had been followed up for ≈5 years or longer. Compared with patients with higher scores, those with the lowest scores at baseline had the earliest onset of scoliosis and a higher need for noninvasive ventilation. The results confirm that all patients with type II SMA demonstrate a clear and progressive decline in long-term follow-up. Findings suggested that the severity of baseline functional impairment can help predict the magnitude of changes over time and overall progression, including scoliosis onset and need for noninvasive ventilation.
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