Results 11 to 20 of about 7,021 (220)

Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy [PDF]

Frontiers in Physiology, 2020
BackgroundSarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes. It is unclear, however, if sarcopenic obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD ...
Kathryn A. Vera, Kathryn A. Vera, Mary McConville, Michael Kyba, Manda L. Keller-Ross, Manda L. Keller-Ross   +5 more
doaj   +4 more sources

Genetics of Facioscapulohumeral Muscular Dystrophy

Pediatric Neurology Briefs, 1991
More than 500 subjects from 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) were studied at the Royal Hospital for Sick Children, St. Michael’s Hill, Bristol and the University of Wales College of Medicine, Heath Park,
J Gordon Millichap
doaj   +3 more sources

Baroreflex sensitivity in facioscapulohumeral muscular dystrophy

Physiological Reports, 2022
Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss.
Miguel Anselmo, Shandon Coffman, Mia Larson, Kathryn Vera, Emma Lee, Mary McConville, Michael Kyba, Manda L. Keller‐Ross   +7 more
doaj   +3 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.
Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Francesco Laschena, Pierfrancesco Ottaviani, Emanuele Leoncini, Stefania Boccia, Giuliana Galluzzi, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Eugenio Mercuri, Enzo Ricci   +12 more
doaj   +9 more sources

Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Respiratory involvement is a comorbidity that should not be overlooked in clinical practice in facioscapulohumeral muscular dystrophy type 1 (FSHD1), with a reported association for severe disease outcomes such as wheelchair dependency.
Xu X, Zheng F, Lin X, Qiu L, Chen L, Xu J, Kang L, Chen J, Wu L, Zheng Y, Zeng M, Lin X, He Q, Chen L, Lin F, Wang N, Lin M, Lyu G, Wang Z.   +18 more
europepmc   +2 more sources

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Pain is a recognized symptom of muscular dystrophy (MD), but little is known about prescription pain medications in this population. We describe pain experiences and pain medications prescribed for individuals with selected MDs using population‐based surveillance data collected by the Muscular Dystrophy Surveillance, Tracking,
Suhl J, Conway KM, Thomas S, Rasmussen SA, Howard JF, Johnson NE, Romitti PA, Mathews KD, Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet).   +9 more
europepmc   +2 more sources

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics. [PDF]

Clin Transl Med
Clinical and Translational Medicine, Volume 15, Issue 8, August 2025.
Liu W, Chen H, Jiao J, Zhang Q, Liang D, Huo H, Ji X, Huang M, Hou X, Cao Y, Wu S, Wang Y, Zhang J, Xu Z, Hu P.   +14 more
europepmc   +2 more sources

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features. [PDF]

Eur J Neurol
ABSTRACT Background and Objectives Camptocormia, a pathological forward flexion of the spine, is a relatively common but often unexplained postural abnormality. Facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent adult myopathies, is caused by a contraction of D4Z4 repeats on chromosome 4 and typically presents with facial ...
Torchia E, Vandeputte P, Monforte M, Gillet C, Verny C, Bernard R, Tasca G, Spinazzi M.   +7 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

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
openaire   +6 more sources