Evidence map›Paper›PMID 40879179›Full record

ArticleMuscle & nerve2025

Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy.

Shannon N Kilburn, Shiny Thomas, Anne L Havlik, Katherine D Mathews, Natalie Street, Aida Soim, Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

Abstract read
In one paragraph

Article in Muscle & nerve, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Shannon N KilburnBureau of Environmental and Occupational Epidemiology, Center of Environmental Health, New York State Department of Health, Albany, New York, USA.ORCID https://orcid.org/0009-0001-9332-9440
Shiny ThomasBureau of Environmental and Occupational Epidemiology, Center of Environmental Health, New York State Department of Health, Albany, New York, USA.ORCID https://orcid.org/0000-0003-3099-4520
Anne L HavlikNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.ORCID https://orcid.org/0009-0001-6294-9591
Katherine D MathewsDepartment of Pediatrics and Neurology, The University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Natalie StreetNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Aida SoimBureau of Environmental and Occupational Epidemiology, Center of Environmental Health, New York State Department of Health, Albany, New York, USA.
Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

Funding

Muscular Dystrophy Specialized Research Center: Project 2P50NS053672 · NINDS · UNIVERSITY OF IOWA · PI KEVIN P. CAMPBELL · 2020 to 2026
$11.9M
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6 · The paper itself

Abstract

INTRODUCTION/

aimsFew studies describing comorbidities in individuals with facioscapulohumeral muscular dystrophy (FSHD) are available. We used data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) to identify and describe the prevalence of three comorbidities-hearing loss, retinal abnormalities, and seizures-in individuals with FSHD.

methodsWe analyzed retrospective population-based data from 548 individuals diagnosed with FSHD who had at least one health visit during 2008-2019. The primary variables of interest were the presence of one or more of the three comorbidities and the age at diagnosis of the comorbidity. We calculated percentages of each comorbidity by population characteristics.

resultsAmong the study cohort, 17.2% (n = 94) had at least one comorbidity, with 1.5% (n = 8) having multiple comorbidities. Hearing loss (13%; n = 71) was the most frequently reported comorbidity, followed by retinal abnormalities (3.6%; n = 20) and seizures (2.0%; n = 11). Median age at diagnosis for hearing loss, retinal abnormalities, and seizures was 46.5 [interquartile range (IQR):11.8-65.3 years], 58.7 (IQR: 41.5-66.5 years), and 16.5 years (IQR: 3.0-34.7 years), respectively. DISCUSSION: This study demonstrated that a substantial minority of the study cohort had hearing loss, while fewer had retinal abnormalities and seizures. Age at diagnosis varied widely; hearing loss and retinal disease tended to occur in adults, while for seizures, half were ≤ 10 years old. Our results on the prevalence of comorbid conditions among individuals living with FSHD help provide a better understanding of disease burden and support recommendations for ophthalmological and hearing screenings.

Indexed as

Hearing LossMuscular Dystrophy, FacioscapulohumeralRetinal DiseasesSeizuresAdolescentAdultAgedChildComorbidityFemaleHumansMaleMiddle AgedPrevalenceRetrospective StudiesYoung Adultcomorbidityfacioscapulohumeral muscular dystrophyhearing lossretinal abnormalityseizure

Identifiers

PMID40879179
PMCPMC12927615

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Registered trials

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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.