Full Text Journal Articles about
Facioscapulohumeral Dystrophy

Advertisement

Find full text journal articles






Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.

Anna Greco, Remko Goossens, Baziel van Engelen, Silvère M van der Maarel,

Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is caused either by the contraction of the D4Z4 macrosatellite repeat at the distal end of chromosome 4q to a size of 1 to 10 repeat units (FSHD1) or by mutations in D4Z4 chromatin modifiers such as Structural Maintenance of Chromosomes Hinge ... Read more >>

Clin. Genet. (Clinical genetics)
[2020, :]

Cited: 0 times

View full text PDF listing >>



[Analysis of D4Z4 mutation in a child with facioscapulohumeral muscular dystrophy presented initially as mental retardation].

Yang Tian, Chi Hou, Zhixiao Yang, Binbin Cao, Wei Zhang, Wenxiong Chen,

OBJECTIVE:To identify pathological mutation of D4Z4 in a child with facioscapulohumeral muscular dystrophy (FSHD) presented initially as mental retardation. METHODS:Wechsler Intelligence Scale for Children Revised in China (WISC-IV) was used to assess the patient's IQ. Other clinical data was also collected. With genomic DNA extracted from peripheral blood samples, the ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(2):150-152]

Cited: 0 times

View full text PDF listing >>



Advertisement

Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy

Kathryn Vera, Mary McConville, Michael Kyba, Manda Keller-Ross,

<title>Abstract</title> <p> Background: Sarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes.It is unclear, however, if sarcopenia obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD). Methods: This research was designed to determine if adults with FSHD meet criteria for ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



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

Angela Lek, Yuanfan Zhang, Keryn G Woodman, Shushu Huang, Alec M DeSimone, Justin Cohen, Vincent Ho, James Conner, Lillian Mead, Andrew Kodani, Anna Pakula, Neville Sanjana, Oliver D King, Peter L Jones, Kathryn R Wagner, Monkol Lek, Louis M Kunkel,

The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of therapeutic discovery for genetic disorders. Here, we demonstrate the utility of a genome-wide CRISPR-Cas9 loss-of-function library to identify therapeutic targets for facioscapulohumeral muscular dystrophy (FSHD), a genetically complex type ... Read more >>

Sci Transl Med (Science translational medicine)
[2020, 12(536):]

Cited: 0 times

View full text PDF listing >>



Spinal fusion in facioscapulohumeral dystrophy for hyperlordosis: A case report.

İlker Eren, Berk Abay, Caner Günerbüyük, Özgür Öztop Çakmak, Cüneyt Şar, Mehmet Demirhan,

RATIONALE:Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, which is associated with facial, shoulder girdle, and paraspinal muscle atrophy. Most of the patients develop hypokyphosis and hyperlordosis in the course of the disease, to preserve standing posture. Corrective fusion is contraindicated in these patients as the surgery ... Read more >>

Medicine (Baltimore) (Medicine)
[2020, 99(8):e18787]

Cited: 0 times

View full text PDF listing >>



Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.

Liangliang Qiu, Zhixian Ye, Lin Lin, Lili Wang, Xiaodan Lin, Junjie He, Feng Lin, Guorong Xu, Naiqing Cai, Ming Jin, Haizhu Chen, Minting Lin, Ning Wang, Zhiqiang Wang,

PURPOSE:To analyse the clinical spectrum, genetic features, specific D4Z4 hypomethylation status and genotype-phenotype correlations for somatic mosaicism in facioscapulohumeral dystrophy (FSHD). METHODS:This was a prospective, hospital-based, case-control, observational study of 35 participants with FSHD with somatic mosaicism recruited over 10 years, with 17 penetrant patients and 18 non-penetrant mutation carriers. ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy.

Rianne J M Goselink, Tim H A Schreuder, Karlien Mul, Nicol C Voermans, Corrie E Erasmus, Baziel G M van Engelen, Nens van Alfen,

OBJECTIVE:With drug trials starting soon, responsive, relevant, and patient-friendly biomarkers are highly needed in facioscapulohumeral dystrophy (FSHD). Our objective was to assess muscle ultrasound (MUS) as an imaging biomarker in patients with FSHD. METHODS:One-year observational, longitudinal study of both quantitative and qualitative MUS changes in FSHD. RESULTS:Twenty-two patients with symptomatic ... Read more >>

Neurology (Neurology)
[2020, :]

Cited: 0 times

View full text PDF listing >>



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

Pascal Boileau, Alexis Pison, Adam Wilson, Olivier van der Meijden, Sabrina Sacconi, Christophe Trojani, Marc-Olivier Gauci,

BACKGROUND:Scapulothoracic arthrodesis (STA) has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy (FSHD). However, the rate of osseous fusion is variable, and there is a theoretical risk of reduced respiratory function after bilateral STA. METHODS:This was a retrospective study of 10 STAs, performed ... Read more >>

J Shoulder Elbow Surg (Journal of shoulder and elbow surgery)
[2020, :]

Cited: 0 times

View full text PDF listing >>



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

Raymond A Huml, Olga Uspenskaya-Cadoz, Jill Dawson, Zachary Slifer,

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 ... Read more >>

Ther Innov Regul Sci (Therapeutic innovation & regulatory science)
[2020, 54(1):144-150]

Cited: 0 times

View full text PDF listing >>



G-quadruplex ligands mediate downregulation of DUX4 expression.

Lukasz Ciszewski, Ngoc Lu-Nguyen, Alex Slater, Andrew Brennan, Huw E L Williams, George Dickson, Mark S Searle, Linda Popplewell,

Abnormal DUX4 expression in skeletal muscles plays a key role in facioscapulohumeral muscular dystrophy (FSHD) pathogenesis, although the molecular mechanisms regulating DUX4 expression are not fully defined. Using bioinformatic analysis of the genomic DUX4 locus, we have identified a number of putative G-quadruplexes (GQs) forming sequences. Their presence was confirmed ... Read more >>

Nucleic Acids Res. (Nucleic acids research)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier, Shahram Attarian,

Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6-8 vs. 9-10 RUs, (2) the amount of ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(6):]

Cited: 0 times

View full text PDF listing >>



Functional Outcomes and Complications Following Scapulothoracic Arthrodesis in Patients with Facioscapulohumeral Dystrophy.

İlker Eren, Ali Erşen, Olgar Birsel, Ata Can Atalar, Piraye Oflazer, Mehmet Demirhan,

BACKGROUND:Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant myopathy characterized by facial and shoulder girdle muscle weakness with scapular winging. Scapulothoracic arthrodesis is a successful treatment approach for patients with <90° of shoulder elevation. The purpose of the present study was to assess functional outcomes and complications following scapulothoracic arthrodesis in patients ... Read more >>

J Bone Joint Surg Am (The Journal of bone and joint surgery. American volume)
[2020, 102(3):237-244]

Cited: 0 times

View full text PDF listing >>



Does DNA Methylation Matter in FSHD?

Valentina Salsi, Frédérique Magdinier, Rossella Tupler,

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4 repeats is considered part of the FSHD mechanism and has been proposed as a reliable marker in the FSHD diagnostic procedure. We ... Read more >>

Genes (Basel) (Genes)
[2020, 11(3):]

Cited: 0 times

View full text PDF listing >>



Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy.

Saskia Lassche, Nicol C Voermans, Robbert van der Pijl, Marloes van den Berg, Arend Heerschap, Hieronymus van Hees, Benno Kusters, Silvère M van der Maarel, Coen A C Ottenheijm, Baziel G M van Engelen,

OBJECTIVE:To investigate single muscle fiber contractile performance in muscle biopsies from patients with facioscapulohumeral muscular dystrophy (FSHD), one of the most common hereditary muscle disorders. METHODS:We collected 50 muscle biopsies (26 vastus lateralis, 24 tibialis anterior) from 14 patients with genetically confirmed FSHD and 12 healthy controls. Single muscle fibers ... Read more >>

Neurology (Neurology)
[2020, 94(11):e1157-e1170]

Cited: 0 times

View full text PDF listing >>



Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy.

Johanna Hamel, Phil Lee, Melanie D Glenn, Tekalign Burka, In-Young Choi, Seth D Friedman, Dennis W W Shaw, Ayla McCalley, Laura Herbelin, Mazen M Dimachkie, Richard Lemmers, Silvère M van der Maarel, Richard J Barohn, Rabi Tawil, Jeffrey M Statland,

INTRODUCTION:Electrical impedance myography (EIM) has been proposed as a noninvasive biomarker of muscle composition in facioscapulohumeral muscular dystrophy (FSHD). Here we determine the associations of EIM variables with muscle structure measured by MRI. METHODS:We evaluated 20 patients with FSHD at two centers, comparing EIM measurements (resistance, reactance, and phase at ... Read more >>

Muscle Nerve (Muscle & nerve)
[2019, :]

Cited: 0 times

View full text PDF listing >>



Response to: Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy. Letter to the editor-reference article: sleep-related breathing disorders in facioscapulohumeral dystrophy (https://doi.org/10.1007/s11325-019-01843-1) by Santos DB et al.

Maya Runte, Jens Spiesshoefer, Anna Heidbreder, Michael Dreher, Peter Young, Tobias Brix, Matthias Boentert,

Sleep Breath (Sleep & breathing = Schlaf & Atmung)
[2019, :]

Cited: 0 times

View full text PDF listing >>



SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres.

Aleksandra Vančevska, Wareed Ahmed, Verena Pfeiffer, Marianna Feretzaki, Simon J Boulton, Joachim Lingner,

Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1) has been implicated in X-chromosome inactivation, imprinting, and DNA damage repair, and mutations in SMCHD1 can cause facioscapulohumeral muscular dystrophy. More recently, SMCHD1 has also been identified as a component of telomeric chromatin. Here, we report that SMCHD1 is required ... Read more >>

EMBO J. (The EMBO journal)
[2020, 39(7):e102668]

Cited: 0 times

View full text PDF listing >>



A hospital based epidemiological study of genetically determined muscle disease in south western Norway.

Sylvia Adele Husebye, Camilla Bratt Rebne, Ann-Elin Stokland, Petter Schandl Sanaker, Laurence A Bindoff,

We determined the prevalence of genetically determined neuromuscular diseases in adult Norwegian patients from Hordaland County. We identified patients using International Classification of Disease codes registered in our hospital database and reviewed patient notes to ensure diagnostic accuracy. To ensure maximal ascertainment, we screened both inpatient and outpatient contacts from ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy : Reference article: Sleep-related breathing disorders in facioscapulohumeral dystrophy (https://doi.org/10.1007/s11325-019-01843-1).

Dante Rasil Santos, Ghilas Boussaid, Tania Stojkovic, Anthony Behin, David Orlikowski, Frédéric Lofaso, Héléne Prigent, Nadege Letilly, Sandrine Butel,

Sleep Breath (Sleep & breathing = Schlaf & Atmung)
[2019, :]

Cited: 0 times

View full text PDF listing >>



Facioscapulohumeral Muscular Dystrophies.

Kathryn R Wagner,

PURPOSE OF REVIEW:Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult patients. This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials. RECENT FINDINGS:As the name implies, FSHD involves weakness of facial ... Read more >>

Continuum (Minneap Minn) (Continuum (Minneapolis, Minn.))
[2019, 25(6):1662-1681]

Cited: 0 times

View full text PDF listing >>



[Inpatients with facioscapulohumeral muscular dystrophy in specialized institutions in Japan from 1999 to 2013-Clinical condition changes and causes of death].

Toshio Saito, Satoshi Kuru, Toshiaki Takahashi, Mikiya Suzuki, Katsuhisa Ogata,

We analyzed the registration data of inpatients with facioscapulohumeral muscular dystrophy (FSHD) receiving care at 27 specialized institutions for muscular dystrophy in Japan from 1999 to 2013 using data from October 1 of each year. The number of inpatients of each year ranged from 63 to 72 (67.1 ± 3.3) ... Read more >>

Rinsho Shinkeigaku (Rinsho shinkeigaku = Clinical neurology)
[2019, 59(11):716-722]

Cited: 0 times

View full text PDF listing >>



Respiratory muscle weakness in facioscapulohumeral muscular dystrophy.

Carolin Henke, Jens Spiesshoefer, Hans-Joachim Kabitz, Simon Herkenrath, Winfried Randerath, Tobias Brix, Dennis Görlich, Peter Young, Matthias Boentert,

INTRODUCTION:The purpose of this study was to comprehensively evaluate respiratory muscle function in adults with facioscapulohumeral muscular dystrophy (FSHD). METHODS:Fourteen patients with FSHD (9 men, 53 ± 16 years of age) and 14 matched controls underwent spirometry, diaphragm ultrasound, and measurement of twitch gastric and transdiaphragmatic pressures (twPgas and twPdi; n = 10) ... Read more >>

Muscle Nerve (Muscle & nerve)
[2019, 60(6):679-686]

Cited: 0 times

View full text PDF listing >>



The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies.

Emma L Bostock, Dawn N O'Dowd, Carl J Payton, Dave Smith, Paul Orme, Bryn T Edwards, Christopher I Morse,

Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly anecdotal evidence. There remains a lack of experimental investigation into resistance training in individuals with muscular dystrophy. The aim of the current study was therefore, to determine the effect ... Read more >>

Front Neurol (Frontiers in neurology)
[2019, 10:1216]

Cited: 0 times

View full text PDF listing >>



Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle.

Omar F Ahmad, Dimah Saade, A Reghan Foley, Carsten Bönnemann, Tanya Lehky,

Muscle Nerve (Muscle & nerve)
[2019, 60(6):E38-E40]

Cited: 0 times

View full text PDF listing >>



A pilot study of the responsiveness of wireless motion analysis in facioscapulohumeral muscular dystrophy.

Jeffrey M Statland, Alex Karanevich, Adam Bruetsch, Jessie Huisinga,

INTRODUCTION:We determined whether instrumenting timed functional tasks with wireless inertial motion sensors were responsive to facioscapulohumeral muscular dystrophy (FSHD) progression and movement pattern changes. METHODS:Ten individuals who were clinically affected with genetically confirmed FSHD, mean age 54 years (range 42-65), performed an instrumented timed up and go (iTUG) trial at each ... Read more >>

Muscle Nerve (Muscle & nerve)
[2019, 60(5):590-594]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
2.8546 s