Results 1 to 10 of about 3,762 (173)
Facioscapulohumeral Muscular Dystrophy [PDF]
Neurologic Clinics, 2014 This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD).FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4.
Jeffrey Statland, Rabi Tawil
exaly +5 more sources
Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations [PDF]
American Journal of Ophthalmology Case Reports, 2018 Purpose: To report a unique case of atypical Coats' Syndrome in an 80 year old female with facioscapulohumeral dystrophy. Observations: An 80 years old female was diagnosed clinically of retinal telangiectasia with exudation threatening the fovia.
Rashmi Akshikar +4 more
doaj +2 more sources
Ophthalmological findings in facioscapulohumeral dystrophy. [PDF]
Brain Commun, 2019 Abstract Ophthalmological abnormalities in facioscapulohumeral dystrophy may lead to treatable vision loss, facilitate diagnostics, could help unravelling the pathophysiology and serve as biomarkers. In this study, we provide a detailed description of the ophthalmological findings in a well-defined cohort of patients with ...
Goselink RJM +7 more
europepmc +5 more sources
Genetics of Facioscapulohumeral Dystrophy
Pediatric Neurology Briefs, 1996 The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine ...
J Gordon Millichap
doaj +4 more sources
A review of Genetic Etiology and Emerging Molecular Therapies for FSHD in Preclinical Studies [PDF]
Reviews in Clinical Medicine, 2021 Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom.
Mohammad Reza Seyyed taghia +4 more
doaj +1 more source
Total Hip Arthroplasty in a Patient With Fascioscapulohumeral Dystrophy
Arthroplasty Today, 2023 Facioscapulohumeral dystrophy is an autosomal dominant disorder that results in progressive muscle weakness. Patients most commonly present with facial and periscapular muscle weakness, which progresses to involve their upper and lower extremities as ...
Rachel A. Thomas, MD +2 more
doaj +1 more source
Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient
SAGE Open Medical Case Reports, 2022 Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting all ages, primarily people in the second decade. The disease is initially presented with face, shoulder girdle, and upper arm involvement, followed by lower extremity muscle ...
Olga Triantafyllidou +3 more
doaj +1 more source
Facioscapulohumeral Dystrophy [PDF]
Physical Therapy, 2008 Facioscapulohumeral dystrophy (FSHD) is the third most common inherited muscular dystrophy after Duchenne dystrophy and myotonic dystrophy. Over the last decade, major advances have occurred in the understanding of the genetics of this disorder. Despite these advances, the exact mechanisms that lead to atrophy and weakness secondary to the genetic ...
Shree, Pandya +2 more
openaire +2 more sources
Facioscapulohumeral Muscular Dystrophy
Continuum, 2022 This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.FSHD has a wide range of severity, yet a distinct phenotype characterized by weakness of the facial, shoulder, and upper arm muscles, followed by weakness ...
Mul, K., Mul, K.
openaire +3 more sources
Disease Models & Mechanisms, 2021 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Andreia Nunes is first author on ‘ Identification
doaj +1 more source