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Article

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy.

Neuromuscular disorders : NMD - 1 Jan 2018

De Sanctis Roberto, Pane Marika, Coratti Giorgia, Palermo Concetta, Leone Daniela, Pera Maria Carmela, Abiusi Emanuela, Fiori Stefania, Forcina Nicola, Fanelli Lavinia, Lucibello Simona, Mazzone Elena S, Tiziano Francesco Danilo, Mercuri Eugenio

Abstract excerpt

The advent of clinical trials has highlighted the need for natural history studies reporting disease progression in type 1 spinal muscular atrophy. The aim of this study was to assess functional changes using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scale in a cohort of type 1 infants. Nutritional and respiratory longitudinal data were also recorded. Patients...

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Identifiers

PMID: 29174525
DOI: 10.1016/j.nmd.2017.09.015

Genes

SMN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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