Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

Marika Pane, Eugenio Maria Mercuri, Giorgia Coratti, Maria Carmela Pera, Simona Lucibello, Jacqueline Montes, Amy Pasternak, Anna Mayhew, Allan M Glanzman, Sally Dunaway Young, Mariacristina Scoto, Sonia Messina, Nathalie Goemans, Andres Nascimiento Osorio, Marina Pedemonte, Valeria Sansone, Enrico Bertini, Darryl C. De Vivo, Richard Finkel, Francesco Muntoni

Risultato della ricerca: Contributo in rivistaArticolo in rivista


The aim of this retrospective study was to establish the range of functional changes at 12 and 24-month in 267 type 2 Spinal Muscular Atrophy (SMA) patients with multiple assessments. We included 652 Hammersmith Functional Motor Scale Expanded (HFMSE) assessments at 12 month- and 305 at 24 month- intervals. The cohort was subdivided by functional level, Survival of Motor Neuron copy number and age. Stable scores (± 2 points) were found in 68% at 12 months and in 55% at 24 months. A decrease ≥2 points was found in 21% at 12 months and in 35% at 24 months. An increase ≥2 points was found in 11% at 12 months and 9.5% at 24 months. The risk of losing ≥2 points increased with age and HFMSE score at baseline both at 12 and 24-month. For each additional HFMSE point at baseline, the relative risk of a >2 point decline at 12 months increases by 5% before age 5 years (p = 0.023), by 8% between 5 and 13 (p<0.001) and by 26% after 13 years (p = 0.003). The combination of age and HFMSE scores at baseline increased the ability to predict progression in type 2 SMA.
Lingua originaleEnglish
pagine (da-a)756-764
Numero di pagine9
RivistaNeuromuscular Disorders
Stato di pubblicazionePubblicato - 2020


  • Hammersmith functional motor scale expanded
  • Neuromuscular disorders
  • Outcome measures
  • Spinal muscular atrophy


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