Research & Literature

Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?

Hazenberg A, van Alfen N, Voet NB, et al.

Respiratory medicine case reports 2015; (14()):37-9 doi:10.1016/j.rmcr.2014.12.006.

New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients.

Lin F, Wang ZQ, Lin MT, et al.

Chinese medical journal 2015; (128(13)):1707-13 doi:10.4103/0366-6999.159336.

Muscle MRI findings in facioscapulohumeral muscular dystrophy.

Gerevini S, Scarlato M, Maggi L, et al.

European radiology 2016; (26(3)):693-705 doi:10.1007/s00330-015-3890-1.

Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study.

Andersen G, Prahm KP, Dahlqvist JR, et al.

Neurology 2015; (85(5)):396-403 doi:10.1212/WNL.0000000000001808.

The Role of D4Z4-Encoded Proteins in the Osteogenic Differentiation of Mesenchymal Stromal Cells Isolated from Bone Marrow.

de la Kethulle de Ryhove L, Ansseau E, Nachtegael C, et al.

Stem cells and development 2015; (24(22)):2674-86 doi:10.1089/scd.2014.0575.

Muscular dystrophy in a patient with multiple sclerosis. Another "double-trouble"?

Parissis D, Ioannidis P, Bakirtzis C, et al.

Multiple sclerosis and related disorders 2015; (4(4)):342-4.

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Tawil R, Kissel JT, Heatwole C, et al.

Neurology 2015; (85(4)):357-64 doi:10.1212/WNL.0000000000001783.

Genetic and epigenetic contributors to FSHD.

Daxinger L, Tapscott SJ, van der Maarel SM

Current opinion in genetics & development 2015; (33()):56-61.

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy.

Mul K, Lassche S, Voermans NC, et al.

Practical neurology 2016; (16(3)):201-7 doi:10.1136/practneurol-2015-001353.

Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.

Hamanaka K, Goto K, Arai M, et al.

Neuromuscular disorders : NMD 2016; (26(4-5)):300-8.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML, Lemmers RJLF, Balog J, et al.

American journal of human genetics 2016; (98(5)):1020-1029 doi:10.1016/j.ajhg.2016.03.013.

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

Goselink RJ, Schreuder TH, Mul K, et al.

BMC neurology 2016; (16()):138 doi:10.1186/s12883-016-0664-6.

Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach.

Fatehi F, Salort-Campana E, Le Troter A, et al.

Revue neurologique 2016; (172(10)):566-571 doi:10.1016/j.neurol.2016.08.002.

Respiratory pattern in a FSHD pediatric population.

Trucco F, Pedemonte M, Fiorillo C, et al.

Respiratory medicine 2016; (119()):78-80 doi:10.1016/j.rmed.2016.08.014.

A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.

Gatica LV, Rosa AL

Neuromuscular disorders : NMD 2016; (26(12)):844-852 doi:10.1016/j.nmd.2016.09.015.

Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1.

Lemmers RJ

Methods in molecular biology (Clifton, N.J.) 2017; (1492()):107-125 doi:10.1007/978-1-4939-6442-0_7.

Facioscapulohumeral Muscular Dystrophy.

Statland JM, Tawil R

Continuum (Minneapolis, Minn.) 2016; (22(6, Muscle and Neuromuscular Junction Disorders)):1916-1931 doi:10.1212/CON.0000000000000399.

Respiratory function in facioscapulohumeral muscular dystrophy 1.

Wohlgemuth M, Horlings CGC, van der Kooi EL, et al.

Neuromuscular disorders : NMD 2017; (27(6)):526-530 doi:10.1016/j.nmd.2017.03.008.

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

Moreira S, Wood L, Smith D, et al.

Journal of neurology 2017; (264(6)):1271-1280 doi:10.1007/s00415-017-8525-9.

Facioscapulohumeral Muscular Dystrophy.

DeSimone AM, Pakula A, Lek A, Emerson CP

Comprehensive Physiology 2017; (7(4)):1229-1279 doi:10.1002/cphy.c160039.

Different profiles of upper limb function in four types of neuromuscular disorders.

Bergsma A, Janssen MMHP, Geurts ACH, et al.

Neuromuscular disorders : NMD 2017; (27(12)):1115-1122 doi:10.1016/j.nmd.2017.09.003.

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

Goselink RJM, Voermans NC, Okkersen K, et al.

Neuromuscular disorders : NMD 2017; (27(12)):1077-1083 doi:10.1016/j.nmd.2017.09.007.

Evaluation of activities of daily living in patients with slowly progressive neuromuscular diseases.

Bienias K, Ścibek J, Cegielska J, Kochanowski J

Neurologia i neurochirurgia polska 2018; (52(2)):222-227 doi:10.1016/j.pjnns.2017.10.007.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Lemmers RJ, van der Vliet PJ, Balog J, et al.

European journal of human genetics : EJHG 2018; (26(1)):94-106 doi:10.1038/s41431-017-0015-0.

A multinational study on motor function in early-onset FSHD.

Mah JK, Feng J, Jacobs MB, et al.

Neurology 2018; (90(15)):e1333-e1338 doi:10.1212/WNL.0000000000005297.

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Renard D, Taieb G, Garibaldi M, et al.

American journal of medical genetics. Part A 2018; (176(8)):1760-1763 doi:10.1002/ajmg.a.38843.

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.

Sasaki-Honda M, Jonouchi T, Arai M, et al.

Human molecular genetics 2018; (27(23)):4024-4035 doi:10.1093/hmg/ddy293.

Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele.

Haynes P, Bomsztyk K, Miller DG

Epigenetics & chromatin 2018; (11(1)):47 doi:10.1186/s13072-018-0215-z.

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.

Wang LH, Friedman SD, Shaw D, et al.

Human molecular genetics 2019; (28(3)):476-486 doi:10.1093/hmg/ddy364.

Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients.

Esnault J, Missaoui B, Bendaya S, et al.

Neuromuscular disorders : NMD 2018; (28(12)):996-1002 doi:10.1016/j.nmd.2018.09.007.

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.

Goselink RJM, Mul K, van Kernebeek CR, et al.

Neurology 2019; (92(4)):e378-e385 doi:10.1212/WNL.0000000000006819.

Effects of weakness of orofacial muscles on swallowing and communication in FSHD.

Mul K, Berggren KN, Sills MY, et al.

Neurology 2019; (92(9)):e957-e963 doi:10.1212/WNL.0000000000007013.

[Research advances in limb-girdle muscular dystrophy type 2Q].

Zhang M, Lan D

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(8)):839-844.

Respiratory muscle weakness in facioscapulohumeral muscular dystrophy.

Henke C, Spiesshoefer J, Kabitz HJ, et al.

Muscle & nerve 2019; (60(6)):679-686 doi:10.1002/mus.26717.

DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy.

Lim KRQ, Nguyen Q, Yokota T

International journal of molecular sciences 2020; (21(3)) doi:10.3390/ijms21030729.

Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences.

Boileau P, Pison A, Wilson A, et al.

Journal of shoulder and elbow surgery 2020; (29(5)):931-940 doi:10.1016/j.jse.2019.10.006.

Updating the Clinical Picture of Facioscapulohumeral Muscular Dystrophy: Ramifications for Drug Development With Potential Solutions.

Huml RA, Uspenskaya-Cadoz O, Dawson J, Slifer Z

Therapeutic innovation & regulatory science 2020; (54(1)):144-150 doi:10.1007/s43441-019-00038-w.

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.

Greco A, Goossens R, van Engelen B, van der Maarel SM

Clinical genetics 2020; (97(6)):799-814 doi:10.1111/cge.13726.

Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.

Lek A, Zhang Y, Woodman KG, et al.

Science translational medicine 2020; (12(536)) doi:10.1126/scitranslmed.aay0271.

DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation.

Banerji CRS, Panamarova M, Zammit PS

Human molecular genetics 2020; (29(14)):2285-2299 doi:10.1093/hmg/ddaa053.

It's not all about muscle: fibroadipogenic progenitors contribute to facioscapulohumeral muscular dystrophy.

Serra C, Wagner KR

The Journal of clinical investigation 2020; (130(5)):2186-2188.

Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review.

Kord D, Liu E, Horner NS, et al.

Shoulder & elbow 2020; (12(2)):75-90 doi:10.1177/1758573219866195.

Generation of a transgene-free iPSC line and genetically modified line from a facioscapulohumeral muscular dystrophy type 2 (FSHD2) patient with SMCHD1 p.Lys607Ter mutation.

Sasaki-Honda M, Kagita A, Jonouchi T, et al.

Stem cell research 2020; (47()):101884 doi:10.1016/j.scr.2020.101884.

Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review.

Chen TH, Wu YZ, Tseng YH

International journal of molecular sciences 2020; (21(20)) doi:10.3390/ijms21207783.

A case of type 1 facioscapulohumeral muscular dystrophy (FSHD) with restrictive ventilatory defect and congestive heart failure.

Morimoto N, Morimoto M, Takahashi Y, et al.

eNeurologicalSci 2020; (21()):100284 doi:10.1016/j.ensci.2020.100284.

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.

Rieken A, Bossler AD, Mathews KD, Moore SA

Neurology 2021; (96(7)):e1054-e1062 doi:10.1212/WNL.0000000000011412.

Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes.

Rashnonejad A, Amini-Chermahini G, Taylor NK, et al.

Molecular therapy. Nucleic acids 2021; (23()):476-486 doi:10.1016/j.omtn.2020.12.004.

Genetic Approaches for the Treatment of Facioscapulohumeral Muscular Dystrophy.

Lim KRQ, Yokota T

Frontiers in pharmacology 2021; (12()):642858 doi:10.3389/fphar.2021.642858.

Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases.

Beretta-Piccoli M, Negro M, Calanni L, et al.

Frontiers in physiology 2021; (12()):686176 doi:10.3389/fphys.2021.686176.

Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

Vincenten SCC, Van Der Stoep N, Paulussen ADC, et al.

Clinical genetics 2022; (101(2)):149-160 doi:10.1111/cge.14031.

Promising Perspective to Facioscapulohumeral Muscular Dystrophy Treatment: Nutraceuticals and Phytochemicals.

Hangül C, Karaüzüm SB, Akkol EK, et al.

Current neuropharmacology 2021; (19(12)):2276-2295 doi:10.2174/1570159X19666210726151924.

Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.

Stence AA, Thomason JG, Pruessner JA, et al.

The Journal of molecular diagnostics : JMD 2021; (23(11)):1506-1514 doi:10.1016/j.jmoldx.2021.07.021.

Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy.

Šikrová D, Cadar VA, Ariyurek Y, et al.

Molecular therapy. Nucleic acids 2021; (25()):342-354 doi:10.1016/j.omtn.2021.05.020.

Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning.

Monforte M, Bortolani S, Torchia E, et al.

Journal of neurology 2022; (269(4)):2055-2063 doi:10.1007/s00415-021-10786-1.

Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.

Jia FF, Drew AP, Nicholson GA, et al.

Neuromuscular disorders : NMD 2021; (31(11)):1101-1112 doi:10.1016/j.nmd.2021.09.010.

Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort.

Kelly CR, Saw JL, Thapa P, et al.

Muscle & nerve 2022; (65(4)):415-421 doi:10.1002/mus.27493.

Meeting report: the 2021 FSHD International Research Congress.

Jagannathan S, de Greef JC, Hayward LJ, et al.

Skeletal muscle 2022; (12(1)):1 doi:10.1186/s13395-022-00287-8.

Downstream events initiated by expression of FSHD-associated DUX4: Studies of nucleocytoplasmic transport, γH2AX accumulation, and Bax/Bak-dependence.

Masteika IF, Sathya A, Homma S, et al.

Biology open 2022; (11(2)) doi:10.1242/bio.059145.

Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient.

Triantafyllidou O, Stavridis K, Kastora SL, Vlahos N

SAGE open medical case reports 2022; (10()):2050313X221081359 doi:10.1177/2050313X221081359.

Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy.

van de Geest-Buit WA, Rasing NB, Mul K, et al.

Disability and rehabilitation 2023; (45(15)):2507-2516 doi:10.1080/09638288.2022.2092779.

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.

Mariot V, Dumonceaux J

Frontiers in genome editing 2022; (4()):937879 doi:10.3389/fgeed.2022.937879.

Management of scapular dysfunction in facioscapulohumeral muscular dystrophy: the biomechanics of winging, arthrodesis indications, techniques and outcomes.

Eren İ, Gedik CC, Kılıç U, et al.

EFORT open reviews 2022; (7(11)):734-746 doi:10.1530/EOR-22-0080.

Facioscapulohumeral Muscular Dystrophy.

Mul K

Continuum (Minneapolis, Minn.) 2022; (28(6)):1735-1751 doi:10.1212/CON.0000000000001155.

Scapulothoracic Fusion Using Multiple Suture Tape Cerclage.

Ba PA, Schoch B, Werthel JD

Techniques in hand & upper extremity surgery 2023; (27(3)):175-181 doi:10.1097/BTH.0000000000000434.

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy.

Runfola V, Giambruno R, Caronni C, et al.

Cell reports 2023; (42(9)):113120 doi:10.1016/j.celrep.2023.113120.

Apabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells.

Sarsons CD, Gilham D, Tsujikawa LM, et al.

Biomedicines 2023; (11(10)) doi:10.3390/biomedicines11102683.

A human immune/muscle xenograft model of FSHD muscle pathology.

Daman K, Yan J, Burzenski LM, et al.

bioRxiv : the preprint server for biology 2023; doi:10.1101/2023.11.17.567590.

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.

Guruju NM, Jump V, Lemmers R, et al.

Neurology. Genetics 2023; (9(6)):e200107 doi:10.1212/NXG.0000000000200107.

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.

Kovanda A, Lovrečić L, Rudolf G, et al.

Genes 2023; (14(12)) doi:10.3390/genes14122166.

Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report.

Manici M, Kalyoncu İ, Gedik CC, et al.

Turkish journal of anaesthesiology and reanimation 2024; (52(1)):36-38 doi:10.4274/TJAR.2024.231471.

Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.

Shim Y, Seo J, Lee ST, et al.

Annals of laboratory medicine 2024; (44(5)):437-445 doi:10.3343/alm.2023.0437.

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.

Engal E, Sharma A, Aviel U, et al.

Science advances 2024; (10(22)):eadn7732 doi:10.1126/sciadv.adn7732.

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).

Attarian S, Beloribi-Djefaflia S, Bernard R, et al.

Journal of neurology 2024; (271(9)):5778-5803 doi:10.1007/s00415-024-12538-3.

Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy.

Vangipurapu R, Oliva J, Fox A, Sverdrup FM

Scientific reports 2024; (14(1)):26437 doi:10.1038/s41598-024-77911-8.

Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network.

Mathews KD, Suhl J, Conway KM, et al.

Neuromuscular disorders : NMD 2025; (46()):105240 doi:10.1016/j.nmd.2024.105240.

Muscle MRI in a Rare Case of Limb-Girdle Muscular Dystrophy 1B.

Bokil SS, Durgi EC, Shah RN, et al.

Cureus 2024; (16(10)):e72413 doi:10.7759/cureus.72413.

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Luglio A, Maggi E, Riviello FN, et al.

Genes 2024; (15(11)) doi:10.3390/genes15111409.

High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay?

Lauletta A, Allenbach Y, Béhin A, et al.

Journal of the neurological sciences 2025; (470()):123400 doi:10.1016/j.jns.2025.123400.

Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with FSHD.

Horwath O, Montiel-Rojas D, Ponsot E, et al.

The Journal of physiology 2025; (603(5)):1057-1069 doi:10.1113/JP287033.

Retinopathy associated with facioscapulohumeral muscular dystrophy. A case report treated with intravitreal dexamethasone implant and laser photocoagulation.

González Escobar AB, Molina Guilabert IE, García Herrera RM, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2025; (100(5)):283-288 doi:10.1016/j.oftale.2025.03.014.

Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study.

Paoletti M, Monforte M, Barzaghi L, et al.

Journal of neurology 2025; (272(4)):306 doi:10.1007/s00415-025-13062-8.

Early-Onset Facial Weakness: Evaluation and Surgical Treatment of Facioscapulohumeral Muscular Disease.

Gomez DA, Lee AD, Hammond JB, et al.

The Journal of craniofacial surgery 2025; (36(5)):1758-1762 doi:10.1097/SCS.0000000000011379.

A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic.

Daman K, Yan J, Biscans A, et al.

Molecular therapy. Methods & clinical development 2025; (33(3)):101513 doi:10.1016/j.omtm.2025.101513.

Current landscape for the management of facioscapulohumeral muscular dystrophy and emerging treatment modalities: A literature review.

Ansari U, Nadora D, Ong L, et al.

AIMS neuroscience 2025; (12(2)):291-311 doi:10.3934/Neuroscience.2025016.

Balancing Risks in Obstetrics: Anesthesia Management in Facioscapulohumeral Muscular Dystrophy with Scoliosis.

Mani A, Jha S, Kumar V, Kumar S

AANA journal 2025; (93(5)):371-374 doi:10.70278/AANAJ/.0000001035.

Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort.

Neyaz T, Conway KM, Yang Y, et al.

Neuromuscular disorders : NMD 2026; (60()):106334 doi:10.1016/j.nmd.2026.106334.

A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study.

Voermans NC, Statland JM, Hayward LJ, et al.

Journal of neuromuscular diseases 2026; 22143602261419558 doi:10.1177/22143602261419558.

Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.

Glaubitz S, Zeng R, Hasanov K, et al.

Clinical and experimental rheumatology 2026; (44(2)):304-312 doi:10.55563/clinexprheumatol/pqmby3.

Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience.

Ji W, Zhao Y, Kang Y, et al.

Journal of patient-reported outcomes 2026; doi:10.1186/s41687-026-01026-z.

SMCHD1 loss re-wires MYOD1 enhancer nexuses and chromatin accessibility landscapes in muscle cells.

Huang Z, Cui W, Klaiss A, Pfeifer GP

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.02.21.707202.