Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring by Andrie Koutsoulidou, Leonidas A. Phylactou

“…We emphasize those muscular dystrophies that gained particular interest for the development of biomarkers, including Duchenne muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy types 1 and 2, Ullrich congenital muscular dystrophy, congenital muscular dystrophy type 1A, Facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy types 2A, 2B, 2C, and 2D, recently renamed as limb-girdle muscular dystrophy R1 calpain3-related, R2 dysferlin-related, R5 γ-sarcoglycan-related, and R3 α-sarcoglycan-related. …”
Get full text

Care for capabilities: Implementing the capability approach in rehabilitation of patients with neuromuscular diseases. Study protocol of the controlled before-after ReCap-NMD study... by Bart Bloemen, Eirlys Pijpers, Edith Cup, Jan Groothuis, Baziel van Engelen, Gert Jan van der Wilt

“…<h4>Methods</h4>Two groups of 30 adult patients with facioscapulohumeral muscular dystrophy or myotonic dystrophy type 1 will be included. …”
Get full text

Functional domains of the FSHD-associated DUX4 protein by Hiroaki Mitsuhashi, Satoshi Ishimaru, Sachiko Homma, Bryant Yu, Yuki Honma, Mary Lou Beermann, Jeffrey Boone Miller

“…Aberrant expression of the full-length isoform of DUX4 (DUX4-FL) appears to underlie pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). DUX4-FL is a transcription factor and ectopic expression of DUX4-FL is toxic to most cells. …”
Get full text

Long-Term Systemic Treatment of a Mouse Model Displaying Chronic FSHD-like Pathology with Antisense Therapeutics That Inhibit <i>DUX4</i> Expression by Ngoc Lu-Nguyen, George Dickson, Alberto Malerba, Linda Popplewell

“…Silencing the expression of the double homeobox 4 (<i>DUX4</i>) gene offers great potential for the treatment of facioscapulohumeral muscular dystrophy (FSHD). Several research groups have recently reported promising results using systemic antisense therapy in a transgenic small animal model of FSHD, the ACTA1-MCM/FLExDUX4 mouse model. …”
Get full text

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD by Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella, Claudia Strafella

“…Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype–phenotype correlation of patients and families, raising the need for further research and data. …”
Get full text

FSHD myotubes with different phenotypes exhibit distinct proteomes. by Alexandra Tassin, Baptiste Leroy, Dalila Laoudj-Chenivesse, Armelle Wauters, Céline Vanderplanck, Marie-Catherine Le Bihan, Frédérique Coppée, Ruddy Wattiez, Alexandra Belayew

“…Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder linked to a contraction of the D4Z4 repeat array in the 4q35 subtelomeric region. …”
Get full text

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy by Valeria Runfola, Roberto Giambruno, Claudia Caronni, Maria Pannese, Annapaola Andolfo, Davide Gabellini

“…Summary: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders and has no cure. …”
Get full text

Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies by Arlek González-Jamett, Walter Vásquez, Gabriela Cifuentes-Riveros, Rafaela Martínez-Pando, Juan C. Sáez, Ana M. Cárdenas

“…MDs in clude Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy. …”
Get full text

Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2) by Riva Paola, Marozzi Anna, Battaglioli Elena, Rossi Elena, Orzan Francesca, Neusser Michaela, Müller Stefan, Cardone Maria, Bodega Beatrice, Rocchi Mariano, Meneveri Raffaella, Ginelli Enrico

“…<p>Abstract</p> <p>Background</p> <p>In order to obtain insights into the functionality of the human 4q35.2 domain harbouring the facioscapulohumeral muscular dystrophy (FSHD) locus, we investigated in African apes genomic and chromatin organisations, and the nuclear topology of orthologous regions.…”
Get full text

miRNA expression in control and FSHD fetal human muscle biopsies. by Débora Morueco Portilho, Marcelo Ribeiro Alves, Gueorgui Kratassiouk, Stéphane Roche, Frédérique Magdinier, Eliane Corrêa de Santana, Anna Polesskaya, Annick Harel-Bellan, Vincent Mouly, Wilson Savino, Gillian Butler-Browne, Julie Dumonceaux

“…BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. …”
Get full text

Scapulothoracic fusion using nonabsorbable suture fixation: surgical technique and review of the literature by Joseph P. Scollan, MD, Morad Chughtai, MD, Peter J. Evans, MD, PhD, Joseph F. Styron, MD, PhD

“…Conclusion: Scapulothoracic fusion has benefit to patients to have failed other management options for winged scapula, most commonly those with neurologic trauma or facioscapulohumeral muscular dystrophy. With advancements in surgical options, fiber-suture offers an alternative to steel wire to achieve fusion. …”
Get full text

Optimization of Xenografting Methods for Generating Human Skeletal Muscle in Mice by Andrea O’Neill, Anna Llach Martinez, Amber L. Mueller, Weiliang Huang, Anthony Accorsi, Maureen A. Kane, David Eyerman, Robert J. Bloch

“…We previously developed methods to generate mature human skeletal muscles in immunocompromised mice starting with human myogenic precursor cells (hMPCs) from healthy individuals and individuals with facioscapulohumeral muscular dystrophy (FSHD). Here, we examine a series of alternative treatments at each stage in order to optimize engraftment. …”
Get full text

Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. by Eugénie Ansseau, Jacqueline S Domire, Lindsay M Wallace, Jocelyn O Eidahl, Susan M Guckes, Carlee R Giesige, Nettie K Pyne, Alexandra Belayew, Scott Q Harper

“…The DUX4 gene, encoded within D4Z4 repeats on human chromosome 4q35, has recently emerged as a key factor in the pathogenic mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD). This recognition prompted development of animal models expressing the DUX4 open reading frame (ORF) alone or embedded within D4Z4 repeats. …”
Get full text

Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies by Annika Saak, Pascal Benkert, Katja Akgün, Eline Willemse, Jens Kuhle, Tjalf Ziemssen, Sandra Jackson, Jochen Schaefer

“…In addition, sNfL were measured in 8 patients with facioscapulohumeral muscular dystrophy (FSHD) and in a disease control group caused by genetic defects exclusively expressed in muscle.Results: sNfL values were significantly elevated in the DM I, the DM II and the mitochondrial group, with FSHD patients showing the lowest sNfL elevations. sNfL levels in the disease control group were not different from the healthy controls. …”
Get full text

Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis — A cross sectional survey by F. Danckworth, N. Karabul, A. Posa, F. Hanisch

“…Methods: Risk factors of osteoporosis, laboratory parameters of bone metabolism, frequency of falls and fractures, walking ability, and pain were surveyed using questionnaires in 89 patients with sIBM and genetically confirmed myopathies facioscapulohumeral muscular dystrophy (FSHD), myotonic dystrophy types 1 and 2 (DM1, DM2), limb girdle muscular dystrophies (LGMD2A, LGMD2B, LGMD2I), MATR3 myopathy, and oculopharyngeal muscular dystrophy (OPMD). …”
Get full text

Antagonism among DUX family members evolved from an ancestral toxic single homeodomain protein by Darko Bosnakovski, Erik A. Toso, Elizabeth T. Ener, Micah D. Gearhart, Lulu Yin, Felipe F. Lüttmann, Alessandro Magli, Ke Shi, Johnny Kim, Hideki Aihara, Michael Kyba

“…Summary: Double homeobox (DUX) genes are unique to eutherian mammals, expressed transiently during zygotic genome activation (ZGA) and involved in facioscapulohumeral muscular dystrophy (FSHD) and cancer when misexpressed. …”
Get full text

The prevalence of hereditary neuromuscular disorders in Northern Norway by Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen

“…Among these, we registered 13.4/100,000 myotonic dystrophy type 1, 6.8/100,000 myotonic dystrophy type 2, 7.3/100,000 Duchenne muscular dystrophy, 1.6/100,000 Becker muscular dystrophy, 3.7/100,000 facioscapulohumeral muscular dystrophy, 12.8/100,000 limb‐girdle muscular dystrophy, 2.5/100,000 hypokalemic periodic paralysis and 11.4/100,000 myotonia congenita. …”
Get full text

Epigenetic modifier SMCHD1 maintains a normal pool of long-term hematopoietic stem cells by Sarah A. Kinkel, Joy Liu, Tamara Beck, Kelsey A. Breslin, Megan Iminitoff, Peter Hickey, Marnie E. Blewitt

“…SMCHD1 is required for X chromosome inactivation in female cells and repression of imprinted and clustered autosomal genes, with SMCHD1 mutations linked to human diseases facioscapulohumeral muscular dystrophy (FSHD) and bosma arhinia and micropthalmia syndrome (BAMS). …”
Get full text

Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism by Justin Cohen, Shushu Huang, Katherine E. Koczwara, Kristen T. Woods, Vincent Ho, Keryn G. Woodman, Jack L. Arbiser, Katelyn Daman, Monkol Lek, Charles P. Emerson, Alec M. DeSimone

“…Abstract Facioscapulohumeral muscular dystrophy (FSHD) is among the most common of the muscular dystrophies, affecting nearly 1 in 8000 individuals, and is a cause of profound disability. …”
Get full text

Induction of a local muscular dystrophy using electroporation in vivo: an easy tool for screening therapeutics by Aline Derenne, Alexandra Tassin, Thuy Hang Nguyen, Estelle De Roeck, Vincianne Jenart, Eugénie Ansseau, Alexandra Belayew, Frédérique Coppée, Anne-Emilie Declèves, Alexandre Legrand

“…DUX4 is normally expressed in germ cells and early embryo, and silenced in adult muscle cells where its pathological reactivation leads to Facioscapulohumeral muscular dystrophy. DUX4 encodes a potent transcription factor causing a large deregulation cascade. …”
Get full text