Evidence map›Paper›PMID 33185984›Full record

ArticleBrain and behavior2021

The prevalence of hereditary neuromuscular disorders in Northern Norway.

Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen

Registry-linked trialAbstract read
In one paragraph

Article in Brain and behavior, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06734949 (Computational Models for New Patients Stratification Strategies of Neuromuscular Disorders), which is not on this map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
–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.

NCT06734949 enrolling by invitationnot on this mapstarted 2024, after this paper: background citation

Computational Models for New Patients Stratification Strategies of Neuromuscular Disorders

Typeobservational_patient_registrySponsorUniversity of Modena and Reggio EmiliaRan2024 to 2027Enrolled500ConditionsNeuromuscular, Disorder, HereditaryArmsAI-guided patient classification
3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
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  11. Limb-girdle muscular dystrophy in pregnancy: a narrative review.Archives of gynecology and obstetrics · 2024
    Review
  12. Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland.Molecular genetics & genomic medicine · 2024
    Article
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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.

Kai Ivar MüllerNational Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway, Tromsø, Norway.ORCID 0000-0002-8686-4226
Marijke Van GhelueDepartment of Clinical Medicine, University of Tromsø, Tromsø, Norway.
Irene LundNational Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway, Tromsø, Norway.
Christoffer JonsrudDepartment of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.
Kjell Arne ArntzenNational Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway, Tromsø, Norway.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway.

methodsFrom January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary neuromuscular disorders.

resultsWe identified 542 patients with a hereditary neuromuscular disorder living in Northern Norway, giving a point prevalence of 111.9/100,000 on January 1, 2020. The prevalence of children (<18 years old) and adults (≥18 years old) were 57.8/100,000 and 125.1/100,000, respectively. Inherited neuropathies had a prevalence of 38.8/100,000. Charcot-Marie-Tooth and hereditary neuropathy with liability to pressure palsies had a prevalence of 29.9/100,000 and 8.3/100,000, respectively. We calculated a prevalence of 3.7/100,000 for spinal muscular atrophies and 2.4/100,000 for Kennedy disease. Inherited myopathies were found in 67.7/100,000. Among these, we registered 13.4/100,000 myotonic dystrophy type 1, 6.8/100,000 myotonic dystrophy type 2, 7.3/100,000 Duchenne muscular dystrophy, 1.6/100,000 Becker muscular dystrophy, 3.7/100,000 facioscapulohumeral muscular dystrophy, 12.8/100,000 limb-girdle muscular dystrophy, 2.5/100,000 hypokalemic periodic paralysis and 11.4/100,000 myotonia congenita.

conclusionOur total prevalence was higher than previously hypothesized in European population-based studies. The prevalence was especially high for myotonia congenita and limb-girdle muscular dystrophy. The prevalence of Charcot-Marie-Tooth polyneuropathy was higher than in most European studies, but lower than previously reported in epidemiological studies in other regions of Norway.

Indexed as

Charcot-Marie-Tooth DiseaseMuscular Dystrophy, DuchenneNeuromuscular DiseasesAdolescentAdultChildHumansNorwayPrevalenceepidemiologyhereditaryneuromuscularprevalence

Identifiers

PMID33185984
PMCPMC7821572

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Registered trials

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.