Results 1 to 10 of about 57,206 (164)
A 12‐Year‐Old Child With a Sunken Sternum and Progressive Muscle Weakness: A Case Report [PDF]
Clinical Case ReportsA 12‐year‐old girl with facioscapulohumeral muscular dystrophy and severe pectus excavatum presented with progressive dyspnea and restrictive ventilatory impairment. She underwent successful Nuss repair with uneventful recovery.
Siman Chen, Chenghao Chen, Qi Zeng
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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
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Hearing Loss in Facioscapulohumeral Dystrophy
Pediatric Neurology Briefs, 2008 The clinical presentation of facioscapulohumeral dystrophy (FSHD) with unusual large 4q35 deletions was studied with attention to hearing loss.
J Gordon Millichap
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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
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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
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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
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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
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Communications Medicine, 2022 Heskamp et al. perform quantitative MRI analysis of end-to-end muscle fat fractions in a series of patients with facioscapulohumeral dystrophy. The authors report that disease initiation commonly occurs at the distal end of affected muscles, with wave ...
Linda Heskamp +3 more
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EYE PATHOLOGIES IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (CASE REPORT AND LITERARY ANALYSIS)
Российский офтальмологический журнал, 2018 In addition to the classic Coats’ disease characterized by retinal vascular telangiectasias and aneurysmal dilatations surrounded by yellowish intra- and subretinal exudates and developing in somatically healthy children, Coats’-like retinal changes can ...
E. V. Denisova +5 more
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Nature Communications, 2021 Facioscapulohumeral muscular dystrophy is a myopathy caused by aberrant de-repression of the DUX4 gene. Here, the authors show that miR-675 inhibits DUX4 expression and protects muscles from DUX4-mediated cell death when administered to mice using AAV ...
Nizar Y. Saad +7 more
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