Evidence map›Paper›PMID 42557809›Full record

ArticleMuscle & nerve2026

Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound.

Federico Pistoia, Elena Faedo, Marta Macciò, Giovanni Marcenaro, Maria Elena Susi, Mehrnaz Hamedani, Veronica Caramellino, Sara Massucco, Andrea Francesco Maria Vollaro, Paola Mandich and 5 more

Abstract readComparative Study
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

15 authors.

Federico PistoiaIRCCS Ospedale Policlinico San Martino, Genoa, Italy.ORCID https://orcid.org/0000-0003-2103-3672
Elena FaedoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genoa, Genoa, Italy.ORCID https://orcid.org/0009-0008-9063-3528
Marta MacciòDepartment of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.ORCID https://orcid.org/0000-0002-8088-2888
Giovanni MarcenaroDepartment of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.ORCID https://orcid.org/0009-0009-1257-1226
Maria Elena SusiDepartment of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.ORCID https://orcid.org/0009-0003-8568-3428
Mehrnaz HamedaniDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genoa, Genoa, Italy.ORCID https://orcid.org/0000-0002-9371-4832
Veronica CaramellinoUniversity of Genoa, Genoa, Italy.
Sara MassuccoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genoa, Genoa, Italy.ORCID https://orcid.org/0009-0003-9938-8163
Andrea Francesco Maria VollaroDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genoa, Genoa, Italy.ORCID https://orcid.org/0009-0000-8829-0994
Paola MandichIRCCS Ospedale Policlinico San Martino, Genoa, Italy.ORCID https://orcid.org/0000-0003-3123-3512
Fabio GottaIRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Riccardo PicassoIRCCS Ospedale Policlinico San Martino, Genoa, Italy.ORCID https://orcid.org/0000-0002-7450-6528
Federico ZaottiniIRCCS Ospedale Policlinico San Martino, Genoa, Italy.ORCID https://orcid.org/0000-0002-9188-0028
Marina GrandisIRCCS Ospedale Policlinico San Martino, Genoa, Italy.ORCID https://orcid.org/0000-0001-6637-4425
Carlo MartinoliIRCCS Ospedale Policlinico San Martino, Genoa, Italy.ORCID https://orcid.org/0000-0001-8201-3849

Funding

Ministry of University and Research (MUR) DN. 1553 11.10.2022
6 · The paper itself

Abstract

aimsFacioscapulohumeral muscular dystrophy (FSHD) is a genetic progressive muscle disorder often presenting with facial weakness. However, imaging studies specifically evaluating facial muscle involvement and its relationship with clinical severity remain limited. This preliminary study explored magnetic resonance imaging (MRI) and ultrasound (US) assessment of facial muscle involvement and correlations with clinical severity.

methodsThis single-center prospective study enrolled 12 genetically confirmed FSHD1 patients (mean age 57.8 years). Clinical evaluation included the FSHD score, Comprehensive Clinical Evaluation Form (CCEF), and Facial Weakness Score (FWS). Muscle thickness of the orbicularis oris (OOr) and zygomaticus major (ZMj) was measured on both MRI and US, while MRI was additionally used for qualitative assessment of muscle bulk. Inter-rater reliability was assessed for imaging measurements.

resultsMRI and US showed comparable facial muscle thickness, with mean ZMj thickness of 2.34 ± 0.75 mm and 2.12 ± 0.55 mm, and OOr thickness of 2.28 ± 0.70 mm and 2.20 ± 0.67 mm, respectively. Inter-rater reliability for MRI was high (ICC = 0.84), and reduced ZMj thickness showed moderate to strong correlation with greater disease severity (ρ up to 0.87, p < 0.001) and impaired facial gestures (ρ = 0.50-0.77, p < 0.05). DISCUSSION: Despite the small sample size, MRI, and US assessment of facial muscles correlated with clinical severity and functional outcomes in FSHD, supporting their use as complementary tools. Longitudinal studies are required to establish imaging's role in monitoring changes over time.

Indexed as

Facial MusclesMagnetic Resonance ImagingMuscular Dystrophy, FacioscapulohumeralAdultAgedFemaleHumansMaleMiddle AgedProspective StudiesReproducibility of ResultsSeverity of Illness IndexUltrasonographyfacial imagingfacial weaknessfacioscapulohumeral muscular dystrophyMRIultrasound

Identifiers

PMID42557809
PMCPMC13549152

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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.