1,920 results match your criteria: "Facioscapulohumeral Dystrophy"
Diagnostics (Basel)
September 2024
Department of Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany.
There is no general consensus on evaluating disease progression in facioscapulohumeral muscular dystrophy (FSHD). Recently, shear wave elastography (SWE) has been proposed as a noninvasive diagnostic tool to assess muscle stiffness in vivo. Therefore, this study aimed to characterize biceps brachii (BB) muscle mechanics in mild-FSHD patients using SWE.
View Article and Find Full Text PDFNeuromuscul Disord
November 2024
Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:
Open Med (Wars)
September 2024
Department of Neurology, University Hospital Zurich, Zurich, Switzerland.
Introduction: 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. IMNM presents with proximal muscle weakness, elevated CK levels, and specific antibodies.
Case Presentation: We describe a 72-year-old patient with muscle weakness persisting for over 3 years after statin therapy.
BMC Neurol
September 2024
Department of Internal Medicine, College of Medicine, King Saud University, PO Box 7805, Riyadh, 11472, Saudi Arabia.
Int J Mol Sci
August 2024
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy, characterized by progressive and asymmetric muscle atrophy, primarily affecting muscles of the face, shoulder girdle, and upper arms before affecting muscles of the lower extremities with age and greater disease severity. FSHD is a disabling condition, and patients may also present with various extramuscular symptoms. FSHD is caused by the aberrant expression of double homeobox 4 () in skeletal muscle, arising from compromised epigenetic repression of the D4Z4 array.
View Article and Find Full Text PDFInt J Environ Res Public Health
July 2024
CRIAMS-Sport Medicine Centre Voghera, University of Pavia, 27058 Voghera, Italy.
Facioscapulohumeral dystrophy (FSHD) leads to progressive changes in body composition such as loss of muscle mass and increase in adiposity. In healthy subjects, anthropometric parameters are associated with the maximum volume of oxygen consumed per minute (VOmax), which is a health and function indicator in several populations of subjects, both healthy and pathological. Since VOmax can be difficult to test in patients with FSHD due to exercise intolerance, the identification of associated anthropometric parameters could provide new easily obtainable elements for the patients' clinical stratification.
View Article and Find Full Text PDFRecent research has sparked a discussion on the spectrum of diseases linked to the gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM have been reported in the literature. We aim to build upon the work of previous researchers by gathering additional information about VCPDM.
View Article and Find Full Text PDFEur J Appl Physiol
August 2024
CRIAMS-Sport Medicine Centre Voghera, University of Pavia, 27058, Voghera, Italy.
Purpose: Fat free mass (FFM) is considered the metabolically active component of human body and is positively associated with maximal oxygen uptake ( ). However, FFM is composed of metabolically active and inactive subcomponents whose proportion can vary depending on body composition and clinical condition, possibly affecting such association. Although it is known that in facioscapulohumeral dystrophy (FSHD) peculiar changes in body composition occur, it is unclear whether there are alterations in FFM composition and, if so, whether such alterations affect the association towards compared to healthy subjects (HS).
View Article and Find Full Text PDFPostep Psychiatr Neurol
June 2024
Faculty of Medicine, Lazarski University, Warsaw, Poland Abstract.
Purpose: Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous mutation and a CCTG expansion in the gene, which suggests the co-occurrence of two diseases in a single patient.
View Article and Find Full Text PDFJ Neurochem
September 2024
Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
Facioscapulohumeral dystrophy (FSHD) has a hypomethylation-related epigenetic background and exhibits a different course in male and female patients. The differences between males and females have been linked to the levels of sex hormones. This study is the first to investigate the possible effect of these hormones on methylation status.
View Article and Find Full Text PDFCurr Opin Neurol
October 2024
Neuromuscular Reference Center PACARARE, La Timone Hospital University, Marseille.
EMBO Mol Med
August 2024
UMR8126 CNRS, Gustave Roussy Cancer campus, Université Paris-Saclay, Villejuif, France.
We have recently identified the uncharacterized ZNF555 protein as a component of a productive complex involved in the morbid function of the 4qA locus in facioscapulohumeral dystrophy. Subsequently named DiPRO1 (Death, Differentiation, and PROliferation related PROtein 1), our study provides substantial evidence of its role in the differentiation and proliferation of human myoblasts. DiPRO1 operates through the regulatory binding regions of SIX1, a master regulator of myogenesis.
View Article and Find Full Text PDFCold Spring Harb Perspect Biol
July 2024
Division of Human Biology, Fred Hutchinson Cancer Center, Seattle, Washington 98109, USA
Facioscapulohumeral dystrophy (FSHD) is caused by misexpression of the early embryonic transcription factor Double Homeobox Protein 4 (DUX4) in skeletal muscle. DUX4 is normally expressed at the 4-cell stage of the human embryo and initiates a portion of the first wave of embryonic gene expression that establishes the totipotent cells of the embryo. Following brief expression, the locus is suppressed by epigenetic silencing and remains silenced in nearly all somatic cells.
View Article and Find Full Text PDFInt J Mol Sci
June 2024
Department of Biological Sciences, School of Life Sciences and the Environment, Royal Holloway University of London, Egham, Surrey TW20 0EX, UK.
Aberrant expression of the double homeobox 4 () gene in skeletal muscle predominantly drives the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD). We recently demonstrated that berberine, an herbal extract known for its ability to stabilize guanine-quadruplex structures, effectively downregulates expression in FSHD patient-derived myoblasts and in mice overexpressing exogenous after viral vector-based treatment. Here, we sought to confirm berberine's inhibitory efficacy on in the widely used FSHD-like transgenic mouse model, ACTA1-MCM/FLExDUX4, where is induced at pathogenic levels using tamoxifen.
View Article and Find Full Text PDFNucleic Acids Res
September 2024
Sprott Center for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute; Ottawa, ON K1H 8L6, Canada.
SMCHD1 is an epigenetic regulatory protein known to modulate the targeted repression of large chromatin domains. Diminished SMCHD1 function in muscle fibers causes Facioscapulohumeral Muscular Dystrophy (FSHD2) through derepression of the D4Z4 chromatin domain, an event which permits the aberrant expression of the disease-causing gene DUX4. Given that SMCHD1 plays a broader role in establishing the cellular epigenome, we examined whether loss of SMCHD1 function might affect muscle homeostasis through additional mechanisms.
View Article and Find Full Text PDFFASEB J
July 2024
Department of Clinical Genetics, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Sci Rep
July 2024
Springbok Analytics, 110 Old Preston Ave., Charlottesville, VA, 22902, USA.
Facioscapulohumeral muscular dystrophy (FSHD) affects roughly 1 in 7500 individuals. While at the population level there is a general pattern of affected muscles, there is substantial heterogeneity in muscle expression across- and within-patients. There can also be substantial variation in the pattern of fat and water signal intensity within a single muscle.
View Article and Find Full Text PDFNeurol Sci
July 2024
Neurology Unit, Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University Hospital San Giovanni di Dio e Ruggi D'Aragona, University of Salerno, Salerno, 84131, Italy.
J Neurol Sci
July 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:
Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disease caused by aberrant DUX4 expression, leading to progressive muscle weakness. No effective pharmaceutical treatment is available. Losmapimod, a small molecule selective inhibitor of p38 α/β MAPK, showed promising results in a phase 1 trial for the treatment of FSHD, prompting additional studies.
View Article and Find Full Text PDFJ Neurol
September 2024
Peripheral Nervous System and Muscle Department, Université Côte d'Azur, CHU Nice, Pasteur 2, Nice Hospital, France.
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 other muscle groups, particularly the abdominal and lower limb muscles.
View Article and Find Full Text PDFMuscle Nerve
August 2024
Advanced Imaging and Artificial Intelligence Center, Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy.
Introduction/aims: Muscle diffusion tensor imaging has not yet been explored in facioscapulohumeral muscular dystrophy (FSHD). We assessed diffusivity parameters in FSHD subjects compared with healthy controls (HCs), with regard to their ability to precede any fat replacement or edema.
Methods: Fat fraction (FF), water T2 (wT2), mean, radial, axial diffusivity (MD, RD, AD), and fractional anisotropy (FA) of thigh muscles were calculated in 10 FSHD subjects and 15 HCs.
Cureus
May 2024
Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, IND.
Background: Muscle diseases are of various types, viz., muscular dystrophies, inflammatory myopathies, myotonic disorders, congenital myopathies, and metabolic myopathies. They all present with muscle weakness, be it proximal or distal.
View Article and Find Full Text PDFAnn Lab Med
September 2024
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
iScience
June 2024
King's College London, Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, London SE1 1UL, UK.
The routine need for myonuclear turnover in skeletal muscle, together with more sporadic demands for hypertrophy and repair, are performed by resident muscle stem cells called satellite cells. Muscular dystrophies are characterized by muscle wasting, stimulating chronic repair/regeneration by satellite cells. Here, we derived and validated transcriptomic signatures for satellite cells, myoblasts/myocytes, and myonuclei using publicly available murine single cell RNA-Sequencing data.
View Article and Find Full Text PDFShoulder Elbow
July 2024
Brisbane Hand and Upper Limb Research Institute, Brisbane, Queensland, Australia.
Introduction: Winging of the scapula occurs due to dysfunction of its stabilising muscles, most commonly serratus anterior and/or trapezius, for example in facioscapulohumeral muscular dystrophy. Resultant loss of scapular control and abnormal kinematics can decrease shoulder function due to glenohumeral joint instability, loss of range of motion and pain. Previously described treatment for cases resistant to physiotherapy includes scapulothoracic arthrodesis which involves risk of non-union and metalwork failure, as well as reduced respiratory function due to immobilisation of a segment of the adjacent chest wall.
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