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Article

Spinal muscular atrophy with five SMN2 copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions.

Frontiers in neurology - 1 Jan 2026

Parmova Olesja, Adamova Blanka

Abstract excerpt

Background: The severity of spinal muscular atrophy (SMA) is partially influenced by SMN2 copy number, although this relationship becomes less reliable at higher copy numbers. The implementation of newborn screening has led to increasing identification of presymptomatic infants with five SMN2 copies, a subgroup for which long-term clinical outcomes remain poorly defined. Consequently, treatment decisions...

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Topics

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Muscular Atrophy, Spinal

Share to Neonatal Screening

Share to Survival of Motor Neuron 1 Protein

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Source

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Identifiers

PMID: 42597359
DOI: 10.3389/fneur.2026.1898311
PMCID: PMC13467840

Genes

SMN2
SMN1

Provenance

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

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Spinal muscular atrophy with five SMN2 copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions.PMID 42597359Read ↗

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