Evidence map›Paper›PMID 41886554›Full record

ArticleNeuroepidemiology2026

Epidemiology of Spinal Muscular Atrophy in Iceland: A Population-Based Study.

Anna Sif Mainka Sveindóttir, Ólafur Árni Sveinsson, Brynhildur Thors, Ólöf Jóna Elíasdóttir

Erratum issuedAbstract read
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Article in Neuroepidemiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Anna Sif Mainka SveindóttirFaculty of Medicine, University of Iceland, Reykjavík, Iceland, annasif03@gmail.com.
Ólafur Árni SveinssonFaculty of Medicine, University of Iceland, Reykjavík, Iceland.
Brynhildur ThorsLandspitali University Hospital, Reykjavík, Iceland.
Ólöf Jóna ElíasdóttirFaculty of Medicine, University of Iceland, Reykjavík, Iceland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionSpinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by the progressive degeneration of motor neurons and the subsequent loss of muscle function. With new therapeutic options for SMA, it is important to understand the epidemiology of the disease. As of January 2024, SMA has been included in newborn screening in Iceland.

objectiveThe aim of the study was to estimate the point prevalence and incidence rate of SMA in Iceland.

methodsThis retrospective, population-based study collected data from the institutional records of the University Hospital of Iceland, pediatricians and privately practising neurologists. The incidence period was from 1997 to 2024, and the point-prevalence day was January 1st 2025. The incidence was calculated per 100,000 live births and the point prevalence per 100,000 residents.

resultsOn the prevalence day, 23 individuals had SMA in Iceland, resulting in a point prevalence of 5.9/100,000. The prevalence of SMA in children under 18 years was 10.6/100,000. During the incidence period, 17 cases of SMA were born, yielding an incidence rate of 13.9/100,000 live births. Of those born during the incidence period, twelve were alive on the prevalence day, resulting in a fatality rate of 29.4%. Two cases of SMA have been diagnosed through newborn screening since it began. DISCUSSION: The incidence and point prevalence of SMA in Iceland are high compared to those reported in other countries.

Indexed as

EpidemiologyGeneticsIncidenceNeuromuscular diseasesPopulation-based studiesPrevalenceSpinal muscular atrophy

Identifiers

PMID41886554
PMCPMC13143295

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.