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Article

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Neuromuscular disorders : NMD - 1 Mar 2026

Milev E, Stimpson G, Ramsey D, Mayhew A, Scoto M, Baranello G, Muni Lofra R, O'Reilly E, Amy Wolfe, Main M, Mazzone E S, Montes J, Glanzman A M, Pasternak A, Duong T, Civitello M, Coratti G, Marini-Bettolo C, Day J, Darras B T, De Vivo D, Finkel R S, Mercuri E, Muntoni F

Abstract excerpt

Spinal muscular atrophy types 2 and 3 encompass a wide spectrum of motor abilities ranging from non-sitting to sitting and walking. This study refines a functional group termed high functioning sitter-standers, positioned between traditional categories, and examined in relation to both the Revised Hammersmith Scale and a World Health Organization motor milestone-based framework. Among 178 participants completing...

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PMID: 41638028
DOI: 10.1016/j.nmd.2026.106336

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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