Results 91 to 100 of about 275,647 (194)

Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy

Otolaryngology Case Reports, 2022
Background: Facioscapulohumeral muscular dystrophy (FSHD) is the one of the most common types of muscular dystrophy. We present a retrospective case description of a patient with late-onset, atypical FSHD and provide an overview of the clinical history ...
Nneoma S. Wamkpah, John J. Chi
doaj   +1 more source

Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape

International Journal of Molecular Sciences
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
Samuel L. Beck, Toshifumi Yokota
semanticscholar   +1 more source

Time‐Efficient Interleaved Spin Density‐Weighted and Inversion Recovery 23Na MRI of the Human Calf Muscle at 7 T

Magnetic Resonance in Medicine, Volume 96, Issue 6, Page 2675-2684, December 2026.
ABSTRACT Purpose Spin density‐weighted (SDW) and inversion recovery (IR) 23Na MRI provide different sodium contrasts with complementary information. Therefore, the aim was to develop a time‐efficient sequence scheme capable of providing both contrasts by acquiring SDW and IR 23Na MRI data within a single sequence without additional measurement time ...
Tobias Wilferth, Fiona Meyer, Jordan M. Höhn, Michael Uder, Armin M. Nagel   +4 more
wiley   +1 more source

A LONGITUDINAL STUDY OF DISEASE PROGRESSION IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD)

Muscle and Nerve
In preparation for clinical trials, it is important to better understand how disease burden changes over time in facioscapulohumeral muscular dystrophy (FSHD) and to assess the capability of select metrics to detect these changes.
A. Varma, Michael S Todinca, K. Eichinger, Susanne Heininger, N. Dilek, William B. Martens, R. Tawil, J. Statland, J. Kissel, Michael P. McDermott, C. Heatwole   +10 more
semanticscholar   +1 more source

Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study

The Lancet Regional Health - Western Pacific, 2021
Summary Background Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a rare disease, which is often underdiagnosed due to its heterogeneous presentations and complex molecular genetic basis, leading to a lack of population-based epidemiology data,
Zhi-Qiang Wang, L. Qiu, Min-Ting Lin, Long-Quan Chen, Fu-Ze Zheng, Lin Lin, Feng Lin, Zhi-xian Ye, Xiao-Dan Lin, Jun-jie He, Li-Li Wang, Xin Lin, Qi-Fang He, Wan-Jin Chen, Yi Lin, Ying Fu, Ning Wang   +16 more
semanticscholar   +1 more source

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy [PDF]

Journal of Pediatric Neurology, 2017
AbstractFacioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in skeletal muscles.
Jean K, Mah, Yi-Wen, Chen
openaire   +2 more sources

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

Muscle &Nerve, Volume 74, Issue 4, Page 1256-1262, October 2026.
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
Federico Pistoia, Elena Faedo, Marta Macciò, Giovanni Marcenaro, Maria Elena Susi, Mehrnaz Hamedani, Veronica Caramellino, Sara Massucco, Andrea Francesco Maria Vollaro, Paola Mandich, Fabio Gotta, Riccardo Picasso, Federico Zaottini, Marina Grandis, Carlo Martinoli   +14 more
wiley   +1 more source

A 5‐year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials

Muscle and Nerve
The number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over the relatively short time span of
J. Kools, S. Vincenten, B. V. van Engelen, Nicoline B. M. Voet, I. Merkies, C. Horlings, N. Voermans, K. Mul   +7 more
semanticscholar   +1 more source

Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross‐Sectional Survey

Physiotherapy Research International, Volume 31, Issue 4, October 2026.
ABSTRACT Background and Purpose Spinal and bulbar muscular atrophy (SBMA) is an adult‐onset X‐linked neuromuscular disorder associated with progressive weakness, sensory involvement and impaired mobility. Falls appear frequent in SBMA, but their real‐world frequency and circumstances have not been systematically described.
Laurence E. Lee, Luca Zampedri, Dipa Jayaseelan, Carlo Rinaldi, Pietro Fratta, Gita M. Ramdharry   +5 more
wiley   +1 more source

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy

Brain : a journal of neurology
Facioscapulohumeral muscular dystrophy (FSHD) is caused by sporadic misexpression of the transcription factor double homeobox 4 (DUX4) in skeletal muscles. So far, monolayer cultures and animal models have been used to study the disease mechanism of FSHD
Marnix Franken, E. van der Wal, Dong-Xu Zheng, B. den Hamer, P. van der Vliet, Richard J. L. F. Lemmers, Anita van den Heuvel, Alexandra L Dorn, Cas G A Duivenvoorden, Stijn L. M. In't Groen, Christian Freund, B. Eussen, R. Tawil, B. V. van Engelen, P. Pijnappel, S. M. van der Maarel, J. D. de Greef   +16 more
semanticscholar   +1 more source