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https://www.readbyqxmd.com/read/29033278/different-profiles-of-upper-limb-function-in-four-types-of-neuromuscular-disorders
#1
Arjen Bergsma, Mariska M H P Janssen, Alexander C H Geurts, Edith H C Cup, Imelda J M de Groot
The aim of this research was to study impairments, activity limitations and participation restrictions due to upper limb involvement in people with four different types of neuromuscular disorders (NMD) - FacioScapuloHumeral Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) - and to investigate whether common or different profiles could be identified. Total of 267 respondents with NMD from the Netherlands answered a set of questionnaires covering upper limb impairments (pain and stiffness), activity limitations and participation restrictions...
September 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29030457/adding-quantitative-muscle-mri-to-the-fshd-clinical-trial-toolbox
#2
Karlien Mul, Sanne C C Vincenten, Nicol C Voermans, Richard J L F Lemmers, Patrick J van der Vliet, Silvère M van der Maarel, George W Padberg, Corinne G C Horlings, Baziel G M van Engelen
OBJECTIVE: To add quantitative muscle MRI to the clinical trial toolbox for facioscapulohumeral muscular dystrophy (FSHD) by correlating it to clinical outcome measures in a large cohort of genetically and clinically well-characterized patients with FSHD comprising the entire clinical spectrum. METHODS: Quantitative MRI scans of leg muscles of 140 patients with FSHD1 and FSHD2 were assessed for fatty infiltration and TIRM hyperintensities and were correlated to multiple clinical outcome measures...
October 13, 2017: Neurology
https://www.readbyqxmd.com/read/28967584/telemedicine-for-facio-scapulo-humeral-muscular-dystrophy-a-multidisciplinary-approach-to-improve-quality-of-life-and-reduce-hospitalization-rate
#3
Simona Portaro, Rocco Salvatore Calabrò, Placido Bramanti, Giuseppe Silvestri, Michele Torrisi, Valeria Conti-Nibali, Santina Caliri, Christian Lunetta, Bernardo Alagna, Antonino Naro, Alessia Bramanti
BACKGROUND: Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases...
September 21, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28947680/increased-frg1-expression-reduces-in-vitro-cell-migration-invasion-and-angiogenesis-ex-vivo-supported-by-reduced-expression-in-tumors
#4
Ankit Tiwari, Niharika Pattanaik, Archita Mohanty Jaiswal, Manjusha Dixit
FSHD region gene 1 is a candidate gene for FSHD. FRG1 regulates various muscle related functions, but studies have proposed its role in development and angiogenesis also, where it is involved with tumor associated molecules. Therefore, we decided to look into its role in tumor progression, tumor angiogenesis, and its impact on cellular properties. Cell proliferation, migration, invasion and in vitro angiogenesis assays were performed to decipher effect of FRG1 on endothelial and epithelial cell functions. Q-RT PCR was done for HEK293T (Human Embyonic Kidney cells) cells with altered FRG1 levels to identify associated molecules...
September 25, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28935672/the-dux4-homeodomains-mediate-inhibition-of-myogenesis-and-are-functionally-exchangeable-with-the-pax7-homeodomain
#5
Darko Bosnakovski, Erik A Toso, Lynn M Hartweck, Alessandro Magli, Heather A Lee, Eliza R Thompson, Abhijit Dandapat, Rita C R Perlingeiro, Michael Kyba
Facioscapulohumeral muscular dystrophy (FSHD) is caused by inappropriate expression of the double homeodomain protein, DUX4. DUX4 has bimodal effects, inhibiting myogenic differentiation and blocking MyoD at low levels of expression, and killing myoblasts at high levels. Pax3 and Pax7, which contain related homeodomains, antagonize the cell death phenotype of DUX4 in C2C12 cells, suggesting some type of competitive interaction. Here, we show that effects on differentiation and MyoD expression require the homeodomains but do not require the C-terminal activation domain of DUX4...
September 21, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28916757/muscle-pathology-from-stochastic-low-level-dux4-expression-in-an-fshd-mouse-model
#6
Darko Bosnakovski, Sunny S K Chan, Olivia O Recht, Lynn M Hartweck, Collin J Gustafson, Laura L Athman, Dawn A Lowe, Michael Kyba
Facioscapulohumeral muscular dystrophy is a slowly progressive but devastating myopathy caused by loss of repression of the transcription factor DUX4; however, DUX4 expression is very low, and protein has not been detected directly in patient biopsies. Efforts to model DUX4 myopathy in mice have foundered either in being too severe, or in lacking muscle phenotypes. Here we show that the endogenous facioscapulohumeral muscular dystrophy-specific DUX4 polyadenylation signal is surprisingly inefficient, and use this finding to develop an facioscapulohumeral muscular dystrophy mouse model with muscle-specific doxycycline-regulated DUX4 expression...
September 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28915324/facioscapulohumeral-muscular-dystrophy
#7
Alec M DeSimone, Anna Pakula, Angela Lek, Charles P Emerson
Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex genetic and epigenetic etiology that has only recently been well described. The most prevalent form of the disease, FSHD1, is associated with the contraction of the D4Z4 microsatellite repeat array located on a permissive 4qA chromosome...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28877559/an-instrumented-timed-up-and-go-in-facioscapulohumeral-muscular-dystrophy
#8
Jessie Huisinga, Adam Bruetsch, Ayla McCalley, Melissa Currence, Laura Herbelin, Omar Jawdat, Mamatha Pasnoor, Mazen Dimachkie, Richard Barohn, Jeffrey Statland
INTRODUCTION: Instrumenting timed functional motor tasks may reveal a continuum of motor disability that predicts future motor dysfunction. METHODS: We performed a prospective study of the instrumented timed up and go (iTUG) test in genetically confirmed facioscapulohumeral muscular dystrophy (FSHD) participants utilizing a commercially available system of wireless motion sensors. Patients returned within 2 weeks to determine test-retest reliability. Gait parameters in FSHD participants were compared to a normative data base, FSHD clinical severity score, manual muscle testing, and patient-reported functional disability...
September 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28870238/bet-bromodomain-inhibitors-and-agonists-of-the-beta-2-adrenergic-receptor-identified-in-screens-for-compounds-that-inhibit-dux4-expression-in-fshd-muscle-cells
#9
Amy E Campbell, Jonathan Oliva, Matthew P Yates, Jun Wen Zhong, Sean C Shadle, Lauren Snider, Nikita Singh, Shannon Tai, Yosuke Hiramuki, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott, Francis M Sverdrup
BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is a progressive muscle disease caused by mutations that lead to epigenetic derepression and inappropriate transcription of the double homeobox 4 (DUX4) gene in skeletal muscle. Drugs that enhance the repression of DUX4 and prevent its expression in skeletal muscle cells therefore represent candidate therapies for FSHD. METHODS: We screened an aggregated chemical library enriched for compounds with epigenetic activities and the Pharmakon 1600 library composed of compounds that have reached clinical testing to identify molecules that decrease DUX4 expression as monitored by the levels of DUX4 target genes in FSHD patient-derived skeletal muscle cell cultures...
September 4, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28841698/long-term-follow-up-of-mri-changes-in-thigh-muscles-of-patients-with-facioscapulohumeral-dystrophy-a-quantitative-study
#10
Farzad Fatehi, Emmanuelle Salort-Campana, Arnaud Le Troter, Emilie Lareau-Trudel, Mark Bydder, Alexandre Fouré, Maxime Guye, David Bendahan, Shahram Attarian
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging (MRI) has been widely used to qualitatively and quantitatively evaluate in vivo the muscle alterations in various neuromuscular disorders...
2017: PloS One
https://www.readbyqxmd.com/read/28764967/ultrasound-imaging-of-muscle-contraction-of-the-tibialis-anterior-in-patients-with-facioscapulohumeral-dystrophy
#11
Kaj Gijsbertse, Rianne Goselink, Saskia Lassche, Maartje Nillesen, André Sprengers, Nico Verdonschot, Nens van Alfen, Chris de Korte
A need exists for biomarkers to diagnose, quantify and longitudinally follow facioscapulohumeral muscular dystrophy (FSHD) and many other neuromuscular disorders. Furthermore, the pathophysiological mechanisms leading to muscle weakness in most neuromuscular disorders are not completely understood. Dynamic ultrasound imaging (B-mode image sequences) in combination with speckle tracking is an easy, applicable and patient-friendly imaging tool to visualize and quantify muscle deformation. This dynamic information provides insight in the pathophysiological mechanisms and may help to distinguish the various stages of diseased muscle in FSHD...
July 29, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28754837/p53-independent-dux4-pathology
#12
Darko Bosnakovski, Micah D Gearhart, Erik A Toso, Olivia O Recht, Anja Cucak, Abhinav K Jain, Michelle C Barton, Michael Kyba
FSHD is a genetically dominant myopathy caused by mutations that disrupt repression of the normally silent DUX4 gene, which encodes a transcription factor that has been shown to interfere with myogenesis when misexpressed at very low levels in myoblasts, and to cause cell death when overexpressed at high levels. A previous report using adeno-associated virus to deliver high levels of DUX4 to mouse skeletal muscle demonstrated severe pathology that was suppressed on a p53 knockout background, implying that DUX4 acted through the p53 pathway...
July 28, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28744936/molecular-combing-reveals-complex-4q35-rearrangements-in-facioscapulohumeral-dystrophy
#13
Karine Nguyen, Francesca Puppo, Stéphane Roche, Marie-Cécile Gaillard, Charlène Chaix, Arnaud Lagarde, Marjorie Pierret, Catherine Vovan, Sylviane Olschwang, Emmanuelle Salort-Campana, Shahram Attarian, Marc Bartoli, Rafaëlle Bernard, Frédérique Magdinier, Nicolas Levy
Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As molecular diagnosis relying on Southern blot (SB) might be challenging in some cases, molecular combing (MC) was recently developed as an additional technique for FSHD diagnosis and exploration of the genomic organization of the 4q35 and 10q26 regions. In complement to the usual SB, we applied MC in a large cohort of 586 individuals with clinical FSHD...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28717081/severe-glomerular-endothelial-injury-associated-with-a-short-d4z4-repeat-on-chromosome-4q35
#14
Satoshi Hibino, Asami Takeda, Ichizo Nishino, Naoyuki Iwata, Masaru Nakano, Kazuki Tanaka, Satoshi Yamakawa, Takuhito Nagai, Osamu Uemura
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot analysis showed a short D4Z4 repeat on chromosome 4q35. She presented with steroid-resistant nephrotic syndrome, and her renal histopathological findings were severe glomerular endothelial injury, which is a new complication associated with this genetic abnormality...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28716073/surgical-correction-of-hyperlordosis-in-facioscapulohumeral-muscular-dystrophy-a-case-report
#15
Haining Tan, Fan Feng, Youxi Lin, Chong Chen, Zheng Li, Jianxiong Shen
BACKGROUND: Hyperlordosis is common in facioscapulohumeral muscular dystrophy (FSHD), which cannot be controlled by bracing. While the surgical treatment is neither reported nor recommended in previous studies, we report the first corrective surgery for hyperlordosis in one wheelchair-dependent FSHD patient. CASE PRESENTATION: A 15-year-old, wheelchair-dependent girl complaining of hyperlordosis and lower extremity weakness was diagnosed as FSHD. Preoperative examination showed hyperlordosis of 116° with scoliosis of 44°...
July 17, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28690764/are-antioxidants-a-potential-therapy-for-fshd-a-review-of-the-literature
#16
REVIEW
Adam Philip Denny, Alison Kay Heather
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy affecting approximately 1 in 7500 individuals worldwide. It is a progressive disease characterised by skeletal muscle weakness and wasting. A genetic mutation on the 4q35 chromosome results in the expression of the double homeobox 4 gene (DUX4) which drives oxidative stress, inflammation, toxicity, and atrophy within the skeletal muscle. FSHD is characterised by oxidative stress, and there is currently no cure and a lack of therapies for the disease...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28637492/expression-patterns-of-fshd-causing-dux4-and-myogenic-transcription-factors-pax3-and-pax7-are-spatially-distinct-in-differentiating-human-stem-cell-cultures
#17
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G Miller
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle. The DUX4 transcription factor has DNA binding domains similar to several paired class homeotic transcription factors, but only myogenic factors PAX3 and PAX7 rescue cell viability when co-expressed with DUX4 in mouse myoblasts. This observation suggests competition for DNA binding sites in satellite cells might limit muscle repair and may be one aspect of DUX4-associated myotoxicity...
June 21, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28625604/225th-enmc-international-workshop-a-global-fshd-registry-framework-18-20-november-2016-heemskerk-the-netherlands
#18
Karlien Mul, June Kinoshita, Hugh Dawkins, Baziel van Engelen, Rossella Tupler
No abstract text is available yet for this article.
April 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28593035/smchd1-regulates-a-limited-set-of-gene-clusters-on-autosomal-chromosomes
#19
Amanda G Mason, Roderick C Slieker, Judit Balog, Richard J L F Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N Filippova, Enrico Ne, Rabi Tawil, Bas T Heijmans, Stephen J Tapscott, Silvère M van der Maarel
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situations result in the incomplete epigenetic repression of the D4Z4-encoded retrogene DUX4 in somatic cells, leading to the aberrant expression of DUX4 in the skeletal muscle. In mice, Smchd1 regulates chromatin repression at different loci, having a role in CpG methylation establishment and/or maintenance...
2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28587678/smchd1-regulates-a-limited-set-of-gene-clusters-on-autosomal-chromosomes
#20
Amanda G Mason, Roderick C Slieker, Judit Balog, Richard J L F Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N Filippova, Enrico Ne, Rabi Tawil, Bas T Heijmans, Stephen J Tapscott, Silvère M van der Maarel
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situations result in the incomplete epigenetic repression of the D4Z4-encoded retrogene DUX4 in somatic cells, leading to the aberrant expression of DUX4 in the skeletal muscle. In mice, Smchd1 regulates chromatin repression at different loci, having a role in CpG methylation establishment and/or maintenance...
June 6, 2017: Skeletal Muscle
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