Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

doi:10.1177/22143602251370577

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Article

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Journal of neuromuscular diseases - 1 Jul 2026

Becker Benedikt, Cordts Isabell, Becker Jutta, Günther Rene, Baumann Matthias, Bernert Günther, Eisenkölbl Astrid, Fiedler Barbara, Flotats-Bastardas Marina, Fleger Martin, Hagenacker Tim, Hahn Andreas, Hobbiebrunken Elke, Bevot Andrea, Jahnel Jörg, Johannsen Jessika, Kamm Christoph, Koch Jan Christoph, Köhler Cornelia, Kölbel Heike, Müller-Felber Wolfgang, Neuwirth Christoph, Plecko Barbara, Stadler Christian, Smitka Martin, Von Moers Arpad, Trollmann Regina, Weiler Markus, Ziegler Andreas, Goldbach Susanne, Probst-Schendzielorz Kristina, Lochmüller Hanns, Schara-Schmidt Ulrike, Walter Maggie C, Kirschner Janbernd, Wirth Brunhilde, Pechmann Astrid, Deschauer Marcus

Abstract excerpt

Background and objectivesThe severity of the phenotype of spinal muscular atrophy (SMA) is highly variable, yet little is known about the phenotypic variation among siblings. We systematically investigated the phenotypic variability of therapy-naïve 5q-SMA siblings leveraging a large multicentre cohort from the SMArtCARE registry.ResultsClinical information was available from 132 siblings of 65 families. There...

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Identifiers

PMID: 40938628
DOI: 10.1177/22143602251370577
PMCID: PMC13434961

Genes

SMN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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