1,288 results match your criteria Facioscapulohumeral Dystrophy


FSHD1 and FSHD2 form a disease continuum.

Neurology 2019 Apr 12. Epub 2019 Apr 12.

From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.

Objective: To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and .

Methods: This is a national multicenter cohort study. We measured motor strength, motor function, and disease severity by manual muscle testing sumscore, Brooke and Vignos scores, clinical severity score (CSS), and age-corrected CSS, respectively. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007456DOI Listing
April 2019
4 Reads

Effect of taping on scapular kinematics of patients with facioscapulohumeral muscular dystrophy.

Neurol Sci 2019 Apr 9. Epub 2019 Apr 9.

Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.

The aim of this study is to investigate the effects of scapular taping on scapular kinematics by three-dimensional electromagnetic system during shoulder elevation in facioscapulohumeral muscular dystrophy patients. A total of 11 patients with facioscapulohumeral muscular dystrophy were included in the study. Scapular anterior-posterior tilt, upward-downward rotation, and internal-external rotations were evaluated using the three-dimensional electromagnetic system during the elevation of the upper limbs in the scapular plane before and after kinesio taping. Read More

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http://dx.doi.org/10.1007/s10072-019-03846-yDOI Listing

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.

J Pediatr Neurol 2018 Aug;16(4):222-231

Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia, United States.

Facioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of in skeletal muscles. Type 1 facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of D4Z4 repeats on 4q35, whereas type 2 FSHD is associated with mutations of the or gene in the presence of a disease-permissive 4qA haplotype. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1604197
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http://dx.doi.org/10.1055/s-0037-1604197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435288PMC
August 2018
6 Reads

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.

Neurogenetics 2019 Mar 25. Epub 2019 Mar 25.

Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, via Ardeatina 354, 00142, Rome, Italy.

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue. Despite the recent application of NGS techniques in the clinical practice, the molecular diagnosis of FSHD is still performed with dated techniques such as Southern blotting. Read More

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http://dx.doi.org/10.1007/s10048-019-00575-4DOI Listing

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy.

Muscle Nerve 2019 Mar 21. Epub 2019 Mar 21.

Department of Clinical and Experimental Medicine, University of Pisa, via Roma 67 56126, Pisa, Italy.

Introduction: The correct phenotypic classification of patients with facioscapulohumeral muscular dystrophy (FSHD) is crucial for directing genetic diagnosis and for the definition of outcome measures in clinical trials.

Methods: Our objective was to ascertain the utility of the Comprehensive Clinical Evaluation Form (CCEF), the clinical classification proposed by the Italian Clinical Network for FSHD, in an independent FSHD patient population from the UK FSHD Patient Registry. We subdivided the patients into group 1, classic FSHD phenotype/category A of CCEF, and group 2, facial sparing phenotypes/category B1 of CCEF. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.26474
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http://dx.doi.org/10.1002/mus.26474DOI Listing
March 2019
9 Reads

Management strategies in facioscapulohumeral muscular dystrophy.

Intractable Rare Dis Res 2019 Feb;8(1):9-13

Department of Nursing, Zhongshan Hospital affiliated with Fudan University, Shanghai, China.

Facioscapulohumeral muscular dystrophy (FSHD) also known as Landouzy-Dejerine disease, is an autosomal-dominant disorder of the skeletal muscles with the name according to the various muscle groups it affects: the face, shoulders and upper arms. It is the third most common genetic degenerative disorder of the skeletal muscles without specific patterns in all the affected individuals. At present there is no cure for the disease but numerous management strategies are available to improve the quality of life and prevent further degeneration of various muscle groups. Read More

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http://dx.doi.org/10.5582/irdr.2019.01016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409109PMC
February 2019
2 Reads

Long-read single-molecule maps of the functional methylome.

Genome Res 2019 04 7;29(4):646-656. Epub 2019 Mar 7.

School of Chemistry, Center for Nanoscience and Nanotechnology, Center for Light-Matter Interaction, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, Ramat Aviv 6997801, Israel.

We report on the development of a methylation analysis workflow for optical detection of fluorescent methylation profiles along chromosomal DNA molecules. In combination with Bionano Genomics genome mapping technology, these profiles provide a hybrid genetic/epigenetic genome-wide map composed of DNA molecules spanning hundreds of kilobase pairs. The method provides kilobase pair-scale genomic methylation patterns comparable to whole-genome bisulfite sequencing (WGBS) along genes and regulatory elements. Read More

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http://dx.doi.org/10.1101/gr.240739.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442387PMC
April 2019
14.630 Impact Factor

[Skeletal muscle MRI of lower limbs in patients with facioscapulohumeral dystrophy].

Zhonghua Yi Xue Za Zhi 2019 Mar;99(9):675-679

Department of Neurology, Henan Provincial People's Hospital & People's Hospital of Zhengzhou University, Zhengzhou 450003, China.

To investigate MRI features of lower limbs in patients with facioscapulohumeral dystrophy(FSHD). The clinical manifestations, myopathological findings and MRI images of 5 FSHD patients were studied retrospectively from June 2016 to December 2017 at Department of Neurology, Henan Provincial People's Hospital, 3 of which had a family history. Analysis of T(1)WI images enabled us to describe muscle fatty infiltration and STIR images to describe muscle edema. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0376-2491.2019.09.008DOI Listing
March 2019
5 Reads

Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy.

Arq Neuropsiquiatr 2019 Feb;77(2):139

Universidade de São Paulo, Faculdade de Medicina (FMUSP), Departamento de Neurologia, São Paulo SP, Brasil.

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http://dx.doi.org/10.1590/0004-282X20190008DOI Listing
February 2019

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

Neurology 2019 Feb 25;92(9):e957-e963. Epub 2019 Jan 25.

From the Department of Neurology (K.M., M.Y.S., A.M., J.M.S.), University of Kansas Medical Center, Kansas City; Department of Neurology (K.N.B., N.E.J.), Virginia Commonwealth University, Richmond; and Department of Neurology (K.M., B.G.M.v.E.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Objective: This study explores the use of quantitative data on strength and fatigability of orofacial muscles in patients with facioscapulohumeral muscular dystrophy (FSHD) and assesses the frequency of swallowing and communication difficulties and their relationship to orofacial muscle involvement.

Methods: We included 43 patients with FSHD and 35 healthy controls and used the Iowa Oral Performance Instrument (IOPI) to obtain quantitative measurements of strength and endurance of lip compression, cheek (buccodental) compression, and tongue elevation. For the assessment of swallowing and communication difficulties, we used the dysphagia-specific quality of life (SWAL-QOL) and Communicative Participation Item Bank questionnaires. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404471PMC
February 2019

Motor unit recruitment in myopathy: The myopathic EMG reconsidered.

J Electromyogr Kinesiol 2019 Apr 19;45:41-45. Epub 2019 Feb 19.

Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal; Department of Neurology, Royal London Hospital and Barts and the London School of Medicine, QMUL, London, UK.

Motor unit recruitment is abnormal in myopathies. We have addressed this subject by recording motor unit potentials (MUPs) using a standard concentric needle electrode in tibialis anterior muscles of clinically normal strength in a group of patients with myopathy (15 with myositis and 4 with facioscapulohumeral muscular dystrophy Type 1). In each recording site, a minimal voluntary contraction was sought in order to activate only 2 MUPs. Read More

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http://dx.doi.org/10.1016/j.jelekin.2019.02.005DOI Listing
April 2019
2 Reads

Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy.

J Neurol 2019 May 18;266(5):1127-1135. Epub 2019 Feb 18.

Section 3342, Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen University, Blegdamsvej 9, 2100, Copenhagen, Denmark.

Objective: Unlike most muscular dystrophies that progress symmetrically at a constant rate, facioscapulohumeral muscular dystrophy (FSHD) is characterized by stepwise, asymmetric progression of muscle wasting, and weakness. Muscle tissue is progressively replaced by fat; however, its relation to preceding inflammation is unclear. In this longitudinal study of FSHD, we assessed muscle inflammation and fat replacement and their relation quantitatively. Read More

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http://dx.doi.org/10.1007/s00415-019-09242-yDOI Listing

Frequency of reported pain in adult males with muscular dystrophy.

PLoS One 2019 14;14(2):e0212437. Epub 2019 Feb 14.

Musculoskeletal Science & Sports Medicine Research Centre, School of Healthcare Science, Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, United Kingdom.

Introduction: The purpose of this study was to present and compare pain between adult males with Duchenne (DMD), Becker's (BMD), Limb-Girdle (LGMD) Facioscapulohumeral (FSHD) forms of Muscular Dystrophy (MD), and healthy controls (CTRL), using three different methods of assessment.

Methods: Pain was assessed using 1) a whole body visual analogue scale (VAS) of pain, 2) a generalised body map and 3) a localised body map.

Results: All types of MD reported more VAS pain than CTRL, with 97% of all MD participants reporting pain; however, no differences were reported between types of MD. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212437PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375632PMC
February 2019
1 Read

Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report.

Medicine (Baltimore) 2019 Jan;98(4):e13887

Myology Institute, Pitié Salpetriere Hospital, APHP, Paris.

Rationale: Diaphragm is the main inspiratory respiratory muscle and little is known about diaphragm ultrasound in facio-scapula-humeral muscular dystrophy, a neuromuscular disease characterized by an asymmetric skeletal muscle involvement.

Patient Concerns: Diaphragm function evaluation DIAGNOSIS:: Diaphragm muscle weakness attested by the drop of vital capacity (VC) value from sitting position (74%) to supine position (46%).

Interventions: A diaphragm ultrasound was performed in supine position, from the anterior subcostal window OUTCOMES:: We found an opposite side to side hemi diaphragm displacement, either during sniff maneuver or during deep inspiration maneuver, showing a cranial abnormal reduced motion of the right hemi diaphragm whereas the left hemi diaphragm moved caudally. Read More

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http://dx.doi.org/10.1097/MD.0000000000013887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358327PMC
January 2019
2 Reads
5.723 Impact Factor

Clinical application of single-molecule optical mapping to a multigeneration FSHD1 pedigree.

Mol Genet Genomic Med 2019 03 21;7(3):e565. Epub 2019 Jan 21.

Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.

Introduction: Facioscapulohumeral muscular dystrophy 1 (FSHD1) is a relatively common autosomal dominant adult muscular dystrophy with variable disease penetrance. The disease is caused by shortening of a D4Z4 repeat array located near the telomere of chromosome 4 at 4q35. This causes activation of a dormant gene DUX4, permitting aberrant DUX4 expression which is toxic to muscles. Read More

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http://dx.doi.org/10.1002/mgg3.565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418370PMC
March 2019
9 Reads

The best care for children with facioscapulohumeral dystrophy.

Dev Med Child Neurol 2019 Jan 20. Epub 2019 Jan 20.

Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1111/dmcn.14158DOI Listing
January 2019

Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood.

Dev Med Child Neurol 2019 Jan 20. Epub 2019 Jan 20.

Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK.

Aim: To explore the clinical course of patients presenting with facioscapulohumeral dystrophy type 1 (FSHD1) in childhood, with a view to identifying areas where they differed from older patients and where extra support or monitoring might be required.

Method: A retrospective case-notes review of children with FSHD1 seen at a tertiary paediatric neuromuscular centre between 2002 and 2016 was performed. Data collected included age at and nature of presentation, path to diagnosis, genetic testing results, motor function, and occurrence of extramuscular features and complications. Read More

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http://dx.doi.org/10.1111/dmcn.14142DOI Listing
January 2019
6 Reads

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy.

Elife 2019 Jan 15;8. Epub 2019 Jan 15.

Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, United States.

DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). DUX4's transcriptional activity has been extensively characterized, but the DUX4-induced proteome remains undescribed. Here, we report concurrent measurement of RNA and protein levels in DUX4-expressing cells via RNA-seq and quantitative mass spectrometry. Read More

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http://dx.doi.org/10.7554/eLife.41740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349399PMC
January 2019
2 Reads

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

Ther Innov Regul Sci 2019 Jan 10:2168479018820313. Epub 2019 Jan 10.

3 North Carolina State University's College of Veterinary Medicine, Raleigh, North Carolina, USA.

Background:: Facioscapulohumeral muscular dystrophy (FSHD) is a complex, inheritable, and rare muscle disease that affects the entire body. The major symptom of FSHD is progressive weakening and loss of skeletal muscles. The usual location of these weaknesses at onset is the origin of the name: face (facio), shoulder girdle (scapulo), and upper arms (humeral). Read More

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http://dx.doi.org/10.1177/2168479018820313DOI Listing
January 2019

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

Neurology 2019 Jan 19;92(4):e378-e385. Epub 2018 Dec 19.

From the Department of Neurology (R.J.M.G., K.M., C.R.v.K., T.H.A.S., C.E.E., G.W.P., N.C.V., B.G.M.v.E.), Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; and Department of Neurology (J.M.S.), Kansas University Medical Center, Kansas City.

Objective: To assess the relation between age at onset and disease severity in facioscapulohumeral muscular dystrophy (FSHD).

Methods: In this prospective cross-sectional study, we matched adult patients with FSHD with an early disease onset with 2 sex-matched FSHD control groups with a classic onset; the first group was age matched, and the second group was disease duration matched. Genetic characteristics, muscle performance, respiratory functioning, hearing loss, vision loss, epilepsy, educational level, and work status were compared with the 2 control groups. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345117PMC
January 2019
16 Reads

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in in a Family With FSHD.

Front Neurol 2018 28;9:1027. Epub 2018 Nov 28.

Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by mutations, are often observed. FSHD may be caused by a contraction of a repetitive element, located on chromosome 4 (4q35). This locus is named and consists of 11 to more than 100 repeated units (RU). Read More

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http://dx.doi.org/10.3389/fneur.2018.01027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279899PMC
November 2018
1 Read

Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.

Curr Stem Cell Rep 2018 4;4(4):299-309. Epub 2018 Oct 4.

3Houston Methodist Neurological Institute and Research Institute, 6670 Bertner Ave R11-117, Houston, TX USA.

Purpose Of Review: Muscular dystrophies (MDs) are a spectrum of muscle disorders, which are caused by a number of gene mutations. The studies of MDs are limited due to lack of appropriate models, except for Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), facioscapulohumeral muscular dystrophy (FSHD), and certain type of limb-girdle muscular dystrophy (LGMD). Human induced pluripotent stem cell (iPSC) technologies are emerging to offer a useful model for mechanistic studies, drug discovery, and cell-based therapy to supplement in vivo animal models. Read More

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http://dx.doi.org/10.1007/s40778-018-0145-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244555PMC
October 2018
3 Reads

Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA.

Cell Rep 2018 Dec;25(11):2955-2962.e3

Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:

Double homeobox (DUX) transcription factors are unique to eutherian mammals. DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and translocations overexpressing the DUX4 double homeodomain cause B cell leukemia. Here, we report the crystal structure of the tandem homeodomains of DUX4 bound to DNA. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183183
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http://dx.doi.org/10.1016/j.celrep.2018.11.060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463520PMC
December 2018
14 Reads
7.207 Impact Factor

Acupuncture improves the facial muscular function in a case of facioscapulohumeral muscular dystrophy.

J Acupunct Meridian Stud 2018 Nov 30. Epub 2018 Nov 30.

Department of Neurology and Neurological Sciences, Stanford University, Stanford, 94305 USA. Electronic address:

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which muscles of the face, shoulder blades and upper arms develop gradual and progressive weakness. There is no effective pharmacological treatment currently available for this disorder so far. We had an opportunity to treat a patient with FSHD using acupuncture. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S20052901163025
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http://dx.doi.org/10.1016/j.jams.2018.11.001DOI Listing
November 2018
14 Reads

The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

Orphanet J Rare Dis 2018 12 4;13(1):218. Epub 2018 Dec 4.

Aix Marseille Univ, INSERM, MMG, Bioinformatics & Genetics, Marseille, France.

Background: Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targeted therapies, patients' identification through registries can facilitate and improve recruitment in clinical trials and studies.

Results: The French National Registry of FSHD patients was designed as a mixed model registry involving both patients and physicians, through self-report and clinical evaluation questionnaires respectively, to collect molecular and clinical data. Read More

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http://dx.doi.org/10.1186/s13023-018-0960-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280451PMC
December 2018
12 Reads

Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy.

Hum Mol Genet 2019 Apr;28(8):1244-1259

Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, King's College London, London, UK.

Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to epigenetic derepression of D4Z4 repeats on chromosome 4q, leading to ectopic DUX4 expression. FSHD patient myoblasts have defective myogenic differentiation, forming smaller myotubes with reduced myosin content. However, molecular mechanisms driving such disrupted myogenesis in FSHD are poorly understood. Read More

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http://dx.doi.org/10.1093/hmg/ddy405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452176PMC
April 2019
27 Reads

Low level DUX4 expression disrupts myogenesis through deregulation of myogenic gene expression.

Sci Rep 2018 Nov 16;8(1):16957. Epub 2018 Nov 16.

Lillehei Heart Institute, University of Minnesota, Minneapolis, MN, 55455, USA.

Loss of silencing of the DUX4 gene on chromosome 4 causes facioscapulohumeral muscular dystrophy. While high level DUX4 expression induces apoptosis, the effects of low level DUX4 expression on human myogenic cells are not well understood. Low levels and sporadic expression of DUX4 have been reported in FSHD biopsy samples and myoblast cultures. Read More

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http://www.nature.com/articles/s41598-018-35150-8
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http://dx.doi.org/10.1038/s41598-018-35150-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240038PMC
November 2018
16 Reads

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.

Hum Mol Genet 2019 Apr;28(7):1064-1075

Department of Human Genetics, Leiden University Medical Center, ZC Leiden, Zuid-Holland, The Netherlands.

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by sporadic de-repression of the transcription factor DUX4 in skeletal muscle. DUX4 activates a cascade of muscle disrupting events, eventually leading to muscle atrophy and apoptosis. Yet, how sporadic DUX4 expression leads to the generalized muscle wasting remains unclear. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddy400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423425PMC
April 2019
11 Reads

AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD.

JCI Insight 2018 11 15;3(22). Epub 2018 Nov 15.

Biomedical Sciences Graduate Program, The Ohio State University, Columbus, Ohio, USA.

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant or digenic disorder linked to derepression of the toxic DUX4 gene in muscle. There is currently no pharmacological treatment. The emergence of DUX4 enabled development of cell and animal models that could be used for basic and translational research. Read More

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https://insight.jci.org/articles/view/123538
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http://dx.doi.org/10.1172/jci.insight.123538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302942PMC
November 2018
13 Reads

[Can acupuncture help relieve muscle pain in muscular dystrophy?]

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:16-19. Epub 2018 Nov 12.

Service de Rééducation neuro-orthopédique, Hôpital Rothschild, Paris, France.

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https://www.medecinesciences.org/10.1051/medsci/201834s205
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http://dx.doi.org/10.1051/medsci/201834s205DOI Listing
November 2018
1 Read

[Non-verbal communication in patients with DM1 and FSHD].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:9-12. Epub 2018 Nov 12.

Université de Toulon, France.

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http://dx.doi.org/10.1051/medsci/201834s203DOI Listing
November 2018
1 Read

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

Neuromuscul Disord 2018 Dec 27;28(12):996-1002. Epub 2018 Sep 27.

Hôpital Rothschild, Service de Reeducation Neuro-orthopédique, 5 Rue Santerre 75012 Paris, France.

Facioscapulohumeral muscular dystrophy type 1 is the third most common inherited myopathy. Its severity is proportionate to the loss of microsatellite D4Z4 repetitions, which are below 10. Patients suffer from weakness in facial muscles, shoulder girdles and ankle dorsiflexors. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.007DOI Listing
December 2018
3 Reads

Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.

Neurotherapeutics 2018 10;15(4):863-871

Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Box 673, Rochester, NY, 14642, USA.

A reliable model of a disease pathomechanism is the first step to develop targeted treatment. In facioscapulohumeral muscular dystrophy (FSHD), the third most common muscular dystrophy, recent advances in understanding the complex genetics and epigenetics have led to the identification of a disease mechanism, moving the field towards targeted therapy development. FSHD is caused by expression of DUX4, a retrogene located on the D4Z4 macrosatellite repeat array on chromosome 4q35, a gene expressed in the germline but typically repressed in somatic tissue. Read More

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http://dx.doi.org/10.1007/s13311-018-00675-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277282PMC
October 2018

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study.

Neuromuscul Disord 2018 Nov 19;28(11):938-946. Epub 2018 Sep 19.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

Overweight and obesity are common in patients with facioscapulohumeral dystrophy (FSHD) and myotonic dystrophy type 1 (DM1). Lifestyle change is often challenging for patients with neuromuscular diseases, especially to increase physical activity. When lifestyle changes have not been effective, bariatric surgery is a treatment option. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183102
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http://dx.doi.org/10.1016/j.nmd.2018.09.003DOI Listing
November 2018
14 Reads

Relationships between muscle size, strength, and physical activity in adults with muscular dystrophy.

J Cachexia Sarcopenia Muscle 2018 Dec 19;9(6):1042-1052. Epub 2018 Oct 19.

Research Centre for Musculoskeletal Science and Sports Medicine, School of Healthcare Science, Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, UK.

Background: Muscular dystrophy (MD) is characterized by progressive muscle wasting and weakness, yet few comparisons to non-MD controls (CTRL) of muscle strength and size in this adult population exist. Physical activity (PA) is promoted to maintain health and muscle strength within MD; however, PA reporting in adults with MD is limited to recall data, and its impact on muscle strength is seldom explored.

Methods: This study included 76 participants: 16 non-MD (CTRL, mean age 35. Read More

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http://doi.wiley.com/10.1002/jcsm.12347
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http://dx.doi.org/10.1002/jcsm.12347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240748PMC
December 2018
30 Reads

A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy.

Ideggyogy Sz 2018 Sep;71(9-10):337-342

Koç University, School of Medicine, Department of Neurology, Istanbul, Turkey.

Background And Purpose: Impaired shoulder function is the most disabling problem for daily life of Fascioscapulohumeral muscular dystrophy (FSHD) patients. Scapulothoracic arthrodesis can give a high impact to the functionality of patients. Here we report our experience with scapulothoracic arthrodesis and spinal stenosis surgery in FSHD patients. Read More

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http://elitmed.hu/kiadvanyaink/ideggyogyaszati-szemle/a-faci
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http://dx.doi.org/10.18071/isz.71.0337DOI Listing
September 2018
15 Reads

Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552).

J Clin Neurosci 2018 Dec 13;58:215-217. Epub 2018 Oct 13.

Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan. Electronic address:

Facioscapulohumeral muscular dystrophy (FSHD) 2 is caused by a combination of heterozygous structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) mutation plus DNA hypomethylation on D4Z4. Here we report two Japanese FSHD2 siblings (brother and sister) with a new SMCHD1 nonsense mutation (a heterogeneous c. 1654C > T substitution, leading to a stop codon Arg552). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09675868183074
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http://dx.doi.org/10.1016/j.jocn.2018.10.021DOI Listing
December 2018
5 Reads
1.320 Impact Factor

Structural basis for multiple gene regulation by human DUX4.

Biochem Biophys Res Commun 2018 Nov 12;505(4):1161-1167. Epub 2018 Oct 12.

State Key Laboratory of Genetic Engineering, Collaborative Innovation Center of Genetics and Development, Department of Physiology and Biophysics, School of Life Sciences, Fudan University, Shanghai, 200438, China. Electronic address:

DUX4 plays critical role in the molecular pathogenesis of the neuromuscular disorder facioscapulohumeral muscular dystrophy and acute lymphoblastic leukemia in humans. As a master transcription regulator, DUX4 can also bind the promoters and activate the transcription of hundreds ZGA-associated genes. Here we report on the structural and biochemical studies of DUX4 double homeodomains (DUX4-DH), representing the only structures contain both homeodomain 1 (HD1) and homeodomain 2 (HD2). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0006291X183220
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http://dx.doi.org/10.1016/j.bbrc.2018.10.056DOI Listing
November 2018
15 Reads

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

Hum Mol Genet 2019 02;28(3):476-486

Neuromuscular Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor normally repressed in skeletal muscle. As targeted therapies are now possible in FSHD, a better understanding of the relationship between DUX4 activity, muscle pathology and muscle magnetic resonance imaging (MRI) changes is crucial both to understand disease mechanisms and for the design of future clinical trials. Here, we performed MRIs of the lower extremities in 36 individuals with FSHD, followed by needle muscle biopsies in safely accessible muscles. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337697PMC
February 2019
16 Reads
6.390 Impact Factor

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.

Hum Mol Genet 2019 01;28(2):320-331

Division of Genetics and Genomics,Boston Children's Hospital, Boston, MA, USA.

Facioscapulohumeral dystrophy type 1 (FSHD-1) is the most common autosomal dominant form of muscular dystrophy with a prevalence of ∼1 in 8000 individuals. It is considered a late-onset form of muscular dystrophy and leads to asymmetric muscle weakness in the facial, scapular, trunk and lower extremities. The prevalent hypothesis on disease pathogenesis is explained by misexpression of a germ line, primate-specific transcription factor DUX4-fl (double homeobox 4, full-length isoform) linked to the chromosome 4q35. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy348DOI Listing
January 2019
7 Reads

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Hum Mol Genet 2018 10;27(20):3488-3497

Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.

Facioscapulohumeral muscular dystrophy, known in genetic forms FSHD1 and FSHD2, is associated with D4Z4 repeat array chromatin relaxation and somatic derepression of DUX4 located in D4Z4. A complete copy of DUX4 is present on 4qA chromosomes, but not on the D4Z4-like repeats of chromosomes 4qB or 10. Normally, the D4Z4 repeat varies between 8 and 100 units, while in FSHD1 it is only 1-10 units. Read More

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https://academic.oup.com/hmg/article/27/20/3488/5042899
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http://dx.doi.org/10.1093/hmg/ddy236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168970PMC
October 2018
2 Reads

A case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association?

Neurol Sci 2019 Jan 13;40(1):195-197. Epub 2018 Sep 13.

Institute of Neurology, University Magna Graecia of Catanzaro, Germaneto, Catanzaro, Italy.

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http://dx.doi.org/10.1007/s10072-018-3554-4DOI Listing
January 2019

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.

Clin Genet 2018 Dec 8;94(6):521-527. Epub 2018 Oct 8.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

To determine how much of the clinical variability in facioscapulohumeral muscular dystrophy type 1 (FSHD1) can be explained by the D4Z4 repeat array size, D4Z4 methylation and familial factors, we included 152 carriers of an FSHD1 allele (23 single cases, 129 familial cases from 37 families) and performed state-of-the-art genetic testing, extensive clinical evaluation and quantitative muscle MRI. Familial factors accounted for 50% of the variance in disease severity (FSHD clinical score). The explained variance by the D4Z4 repeat array size for disease severity was limited (approximately 10%), and varied per body region (facial muscles, upper and lower extremities approximately 30%, 15% and 3%, respectively). Read More

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http://dx.doi.org/10.1111/cge.13446DOI Listing
December 2018
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A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Chin Med J (Engl) 2018 Sep;131(18):2164-2171

Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.

Methods: Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing. Read More

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http://dx.doi.org/10.4103/0366-6999.240797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144853PMC
September 2018
26 Reads

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers.

J Neurol 2018 Nov 6;265(11):2646-2655. Epub 2018 Sep 6.

Department of Neurology and Clinical Neurophysiology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

Objective: To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients.

Methods: We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and assessed images, both quantitatively and visually, for fatty infiltration, fibrosis and edema.

Results: The MRI fat fraction and ultrasound echogenicity z-score correlated strongly (CC 0. Read More

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http://dx.doi.org/10.1007/s00415-018-9037-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182682PMC
November 2018
1 Read

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.

Ann Neurol 2018 Nov 16;84(5):627-637. Epub 2018 Oct 16.

Department of Neurology, Donders Centre for Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.

Objective: Facioscapulohumeral dystrophy (FSHD) is one of the most frequent heritable muscular dystrophies, with a large variety in age at onset and disease severity. The natural history and molecular characteristics of FSHD in childhood are incompletely understood. Our objective is to clinically and genetically characterize FSHD in childhood. Read More

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http://doi.wiley.com/10.1002/ana.25326
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http://dx.doi.org/10.1002/ana.25326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282793PMC
November 2018
44 Reads