Review Paper Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy after the dystrophinopathies and Facioscapulohumeral muscular ...
一、适应证 第一组包括面肩胛骨肱骨失功能(facioscapulohumeral muscular dystrophy, FSHD)患者, 是一种进展性的常染色体显性遗传肌肉营养不良性疾病, 导致面肌、肩胛带肌、上臂肌甚至有些患者中还有腹肌力量的减弱。FSHD 累及一些肌肉较另外一些肌肉多, 主要包括前...
Growing Up With FSHD: Directed by Alexi Pappas. With Calli Pappas, Edward Norris, Robert Norris, Diane Pappas. This documentary follows the lives of 4 family members living with FSHD. FSHD is a rare form of muscular dystrophy in which your muscles deteri
Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35. Within each repeat unit is a gene,DUX4, that can encode a protein containing two homeodomains. ADUX4transcript derived from the last repeat unit...
Molecular diagnosis of facioscapulohumeral muscular dystrophy. The search for the FSHD gene has been hampered both by sequence homologies between the 4q35 candidate region and other chromosomal regions and by the ... Meena,Upadhyaya,David,... - 《Expert Review of Molecular Diagnostics》 被引量:...
Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype permissive for DUX4 mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2. Facioscapulo
Facioscapulohumeral dystrophyTargeted therapyLosmapimodDUX4 proteinAntisense oligonucleotideCRISPR gene therapyPurpose of review This review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral dystrophy (FSHD). We discuss current management ...
Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized by weakness of the facial, shoulder (often with scapular winging), arm (including biceps and triceps...
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to ...
Taking into account the literature from large-scale population studies and ongoing technological advancement, this review described some examples to show how a multi-skilled team can improve the complex diagnosis of rare diseases. In this regard, Facio-Scapulo-Humeral muscular Dystrophy (FSHD) ...