Results 11 to 20 of about 3,828 (168)

A 12‐Year‐Old Child With a Sunken Sternum and Progressive Muscle Weakness: A Case Report

Clinical Case Reports
A 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
doaj   +2 more sources

Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

PLoS ONE, 2014
BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination.
Emanuela Taioli, Stefania Boccia, Mauro Monforte   +2 more
exaly   +2 more sources

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy [PDF]

Open Medicine
Statin use can lead to various muscle-related issues, including benign creatine kinase (CK) elevations, myalgias, toxic myopathies, rhabdomyolysis, and immune-mediated necrotizing myositis (IMNM), which primarily affects older males.
Braun Andreas Albert, Atiya Monika, Göhner Katja, Hortobagyi Tibor, Burkhardt Tobias, Schreiner Bettina   +5 more
doaj   +2 more sources

A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic [PDF]

Molecular Therapy: Methods & Clinical Development
Facioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman, Jing Yan, Annabelle Biscans, Dimas Echeverria, Taisia Shmushkovich, Alexey Wolfson, Julia F. Alterman, Anastasia Khvorova, Charles P. Emerson, Jr.   +8 more
doaj   +2 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, Reza Jafarzadeh Esfehani, Reza Boostani, Mohammad Shariati, Ariane Sadr Nabavi   +4 more
doaj   +1 more source

Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound. [PDF]

Muscle Nerve
ABSTRACT Aims Facioscapulohumeral muscular dystrophy (FSHD) is a genetic progressive muscle disorder often presenting with facial weakness. However, imaging studies specifically evaluating facial muscle involvement and its relationship with clinical severity remain limited. This preliminary study explored magnetic resonance imaging (MRI) and ultrasound
Pistoia F, Faedo E, Macciò M, Marcenaro G, Susi ME, Hamedani M, Caramellino V, Massucco S, Vollaro AFM, Mandich P, Gotta F, Picasso R, Zaottini F, Grandis M, Martinoli C.   +14 more
europepmc   +2 more sources

Facioscapulohumeral Muscular Dystrophy [PDF]

Current Opinion in Neurology, 2012
In recent years, we have seen remarkable progress in our understanding of the disease mechanism underlying facioscapulohumeral muscular dystrophy (FSHD). The purpose of this review is to provide a comprehensive overview of our current understanding of the disease mechanism and to discuss the observations supporting the possibility of a developmental ...
Maarel, S.M. van der, Miller, D.G., Tawil, R., Filippova, G.N., Tapscott, S.J.   +4 more
  +7 more sources

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, Konstantinos Stavridis, Stavroula Lila Kastora, Nikolaos Vlahos   +3 more
doaj   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy. [PDF]

Ann Neurol
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Mul K, McDermott MP, Butterfield RJ, Elsheikh B, Eichinger K, Johnson NE, Leung DG, LoRusso S, Lewis L, Martens WB, Shieh PB, Wang LH, Walker M, Tawil R, Statland JM, ReSolve Investigators of the FSHD‐CTRN.   +15 more
europepmc   +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