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Oculopharyngeal muscular dystrophy

Definitions, 2020
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal).
John J. Chen, Richard C. Allen
semanticscholar   +1 more source

Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update

Genes, 2020
Neuromuscular disorders encompass a heterogeneous group of conditions that impair the function of muscles, motor neurons, peripheral nerves, and neuromuscular junctions.
Chengmei Sun, Luoan Shen, Zheng Zhang, Xing Xie   +3 more
semanticscholar   +1 more source

DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy

Cells, 2021
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4) has gone from being an obscure entity to being a key factor in important physiological and pathological processes.
Emanuele Mocciaro, Valeria Runfola, Paola Ghezzi, Maria Pannese, Davide Gabellini   +4 more
doaj   +1 more source

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Journal of Cachexia, Sarcopenia and Muscle, 2020
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are characterized by muscle wasting leading to loss of ambulation in the first or third decade, respectively.
D. Capitanio, M. Moriggi, E. Torretta, P. Barbacini, S. De Palma, A. Viganò, H. Lochmüller, F. Muntoni, A. Ferlini, M. Mora, C. Gelfi   +10 more
semanticscholar   +1 more source

The muscular dystrophies [PDF]

Postgraduate Medical Journal, 1992
In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal ...
openaire   +2 more sources

Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy

Orphanet Journal of Rare Diseases, 2019
Background Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their ...
Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong, Dmitry Khodyakov   +5 more
doaj   +1 more source

Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry

BMC Neurology, 2019
Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulatory US males ...
Leslie Cowen, Maria Mancini, Ann Martin, Ann Lucas, Joanne M. Donovan   +4 more
doaj   +1 more source

ISPD Overexpression Enhances Ribitol-Induced Glycosylation of α-Dystroglycan in Dystrophic FKRP Mutant Mice

Molecular Therapy: Methods & Clinical Development, 2020
Dystroglycanopathy, a subgroup of muscular dystrophies, is characterized by hypoglycosylation of α-dystroglycan (α-DG), which reduces its laminin-binding activity to extracellular matrix proteins, causing progressive loss of muscle integrity and function.
Marcela P. Cataldi, Anthony Blaeser, Peijuan Lu, Victoria Leroy, Qi Long Lu   +4 more
doaj   +1 more source

Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular Dystrophy

Journal of Neuromuscular Diseases, 2020
Glucocorticoid steroids are widely used as immunomodulatory agents in acute and chronic conditions. Glucocorticoid steroids such as prednisone and deflazacort are recommended for treating Duchenne Muscular Dystrophy where their use prolongs ambulation ...
M. Quattrocelli, Aaron S. Zelikovich, Isabella M. Salamone, Julie Fischer, E. McNally   +4 more
semanticscholar   +1 more source

Tween 85-Modified Low Molecular Weight PEI Enhances Exon-Skipping of Antisense Morpholino Oligomer In Vitro and in mdx Mice

Molecular Therapy: Nucleic Acids, 2017
We investigated a series of Tween 85 modified low molecular weight polyethylenimine (LPEI, 0.8k/1.2k/2.0k)-copolymers (Zs) through simple formulation and covalent conjugation with phosphorodiamidate morpholino oligomer (PMO) for their potential to ...
Mingxing Wang, Bo Wu, Jason D. Tucker, Sapana N. Shah, Peijuan Lu, Lauren E. Bollinger, Qilong Lu   +6 more
doaj   +1 more source