Evidence map›Paper›PMID 41251564›Full record

ArticleMuscle & nerve2026

Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.

Elena Rossini, Leighann Henehan, Yin Yao Dong, Chiara Marini Bettolo, Pinki Munot, Heinz Jungbluth, Fiona Norwood, Imelda Hughes, David Beeson, Sithara Ramdas and 1 more

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In one paragraph

Article in Muscle & nerve, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Elena RossiniDepartment of Clinical Neurology, John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford, UK.ORCID https://orcid.org/0009-0002-7862-6743
Leighann HenehanDepartment of Clinical Neurology, John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford, UK.
Yin Yao DongNeurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Chiara Marini BettoloJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Pinki MunotDubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.
Heinz JungbluthDepartment of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, Children's Neurosciences Centre, London, UK.
Fiona NorwoodDepartment of Neurology, King's College Hospital, London, UK.
Imelda HughesRegional Paediatric Neuromuscular Unit, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
David BeesonNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.ORCID https://orcid.org/0000-0001-9395-7132
Sithara RamdasDepartment of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK.ORCID https://orcid.org/0000-0003-3790-2190
Jacqueline PalaceDepartment of Clinical Neurology, John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

INTRODUCTION/

aimsCongenital myasthenic syndromes (CMS) are often underdiagnosed due to phenotypic overlap with other neuromuscular disorders. Limited epidemiological data and low awareness hinder early diagnosis, which is key for effective treatment. Early recognition of CMS is important as symptomatic treatments often specific for genetic subtypes exist and emerging therapies are in the pipeline. This study aims to estimate the prevalence of genetically confirmed CMS in the United Kingdom and explore geographical variations.

methodsPrevalence was calculated as of 31 December 2023, including genetically confirmed CMS patients residing in the United Kingdom and known to be alive. Patients with missing geographic or living status data were excluded. Prevalence was estimated overall and compared between UK regions served by a highly specialized neuromuscular service (hsNMS) and those without such services (non-hsNMS).

resultsA cohort of 442 genetically confirmed CMS patients was identified. CHRNE deficiency, DOK7, RAPSN were the most common subtypes. The UK prevalence was 6.5 cases per million overall and 8.5 cases per million in the pediatric population. The overall prevalence was statistically higher in hsNMS (8.8 cases per million) compared to non-hsNMS regions (5.9 cases per million). Homozygous patients had a more clustered distribution particularly around urban area. DISCUSSION: Our results suggest there is likely underdiagnosis of CMS in many areas of the United Kingdom and hsNMS may play an important diagnostic role. Variations may also be related to other cultural clustering and founder effects. Further research should explore how healthcare access, ethnicity, and consanguinity contribute to regional variation and diagnostic rates.

Indexed as

Myasthenic Syndromes, CongenitalAdolescentAdultAgedChildChild, PreschoolCohort StudiesFemaleHumansInfantMaleMiddle AgedMuscle ProteinsPrevalenceUnited KingdomYoung AdultMuscle Proteinscongenital myasthenic syndromesepidemiologygenetic subtypeshighly specialized neuromuscular servicesprevalence

Identifiers

PMID41251564
PMCPMC12690014

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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 OpenQuestion graph.