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ReviewJournal of neuromuscular diseases2025

Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.

Johanna Cw Deenen, André Lm Verbeek, Jan Jgm Verschuuren, Baziel Gm van Engelen, Nicol C Voermans

Abstract readReview
In one paragraph

Review in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

15 citing papers in PubMed.

  1. Trial
  2. Review
  3. Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026
    Article
  4. Article
  5. Article
  6. The neuropathy-causingbioRxiv : the preprint server for biology · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Molecular therapy. Nucleic acids · 2026
    Article
  12. Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026
    Review
  13. Article
  14. Review
  15. 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

5 authors.

Johanna Cw DeenenDepartment of Neurology, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
André Lm VerbeekDepartment for Health Evidence, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Jan Jgm VerschuurenDepartment of Neurology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands.
Baziel Gm van EngelenDepartment of Neurology, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Nicol C VoermansDepartment of Neurology, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundEpidemiological frequency measures serve as reference point for patients, clinicians, researchers, and policymakers. Previously, we published a comprehensive review of the literature with prevalence and incidence rates for thirty neuromuscular disorders frequently encountered in the neuromuscular clinic. No meta-analyses were available at the time.

objectiveWe included various new studies and meta-analyses that have been published since 2014, we aim to update our previous review.

methodsPubmed was searched for 'incidence' and 'prevalence' in combination with seventeen acquired and inherited neuromuscular disorders to identify peer-reviewed literature from 1990 to 2023. If multiple prevalence and incidence rates were found, these were summarized by providing the mean, the number of the estimates on which the mean was based and the range of these estimates. Additionally, we searched for meta-analyses to compare the found mean prevalence rates based on the summary of individual studies with the pooled prevalence rates based on the meta-analyses.

resultsThe mean prevalence estimates for 17 disorders ranged from 0.3/100,000 population for Lambert-Eaton myasthenic syndrome, glycogenosis type V and nemaline myopathy to 20/100,000 for Charcot-Marie-Tooth disease type I. We found annual incidence rates for eight disorders, ranging from 0.3/100,000 population for progressive (spinal) muscular atrophy and facioscapulohumeral muscular atrophy to 1/100,000 for Charcot-Marie-Tooth disease type 1 and myotonic dystrophy type 1. Plotting the mean prevalence estimates from the current study against the pooled prevalence estimates from eight meta-analyses showed reasonable agreement.

conclusionsEpidemiological frequencies about neuromuscular diseases- and in particular data on incidence are scarce. The mean prevalence estimates based on recently published studies on individual cohorts correspond well with the findings from the sparingly performed meta-analyses.

Indexed as

Neuromuscular DiseasesHumansIncidencePrevalenceepidemiologyincidencemuscular diseasesneuromuscular diseaseprevalence

Identifiers

PMID40034005
PMCPMC13142861

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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.