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Observational Study
. 2019 Sep 24;93(13):e1241-e1247.
doi: 10.1212/WNL.0000000000008166. Epub 2019 Aug 26.

Long-term progression in type II spinal muscular atrophy: A retrospective observational study

Eugenio Mercuri  1 , Simona Lucibello  2 , Maria Carmela Pera  2 , Sara Carnicella  2 , Giorgia Coratti  2 , Roberto de Sanctis  2 , Sonia Messina  2 , Elena Mazzone  2 , Nicola Forcina  2 , Lavinia Fanelli  2 , Giulia Norcia  2 , Laura Antonaci  2 , Anna Lia Frongia  2 , Marika Pane  2
Affiliations
Observational Study

Long-term progression in type II spinal muscular atrophy: A retrospective observational study

Eugenio Mercuri et al. Neurology. .

Abstract

Objective: To report the long-term progression in a cohort of patients with type II spinal muscular atrophy (SMA) assessed with the Hammersmith Functional Motor Scale-Expanded.

Methods: Seventy-three patients (age 2.6-25 years) were included in the study. Twenty-eight of the 73 were first assessed before the age of 5 years and had been followed up for ≈5 years or longer. We observed an overall progression that was not linear. A piecewise regression analysis showed an improvement of scores in the younger patients with a point of slope change at ≈5 years of age, a decline between 5 and 13 years of age, and stability/slower decline after that.

Results: Patients with the lowest scores at baseline had the earliest onset of scoliosis and a higher need for noninvasive ventilation compared to those with higher scores. Our results confirm that on the long-term follow-up all patients with type II SMA show a clear and progressive decline.

Conclusion: The severity of functional impairment at baseline can help to predict the magnitude of changes over time and the overall progression, including onset of scoliosis and need for noninvasive ventilation.

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Figures

Figure 1
Figure 1. Details of the HFMSE distribution
Hammersmith Functional Motor Scale–Expanded (HFMSE) score distribution of the whole cohort (black circle) and longitudinal cohort (gray circle). Interpolation line represents the HFMSE progression subdivided by whole cohort (black line) and longitudinal cohort (gray line).
Figure 2
Figure 2. Details of progression
(A–D) Individual details of the overall progression in all the 28 patients followed up longitudinally and in the subgroups divided according to their Hammersmith Functional Motor Scale–Expanded (HFMSE) scores at baseline.
See this image and copyright information in PMC

References

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    1. Tiziano FD, Bertini E, Messina S, et al. . The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study. Neuromuscul Disord 2007;17:400–403. - PubMed
    1. Mercuri E, Finkel R, Montes J, et al. . Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord 2016;26:126–131. - PMC - PubMed

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