Results 31 to 40 of about 275,647 (194)
Facioscapulohumeral muscular dystrophy [PDF]
Rare Diseases, 2013 Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and
Stadler, Guido +4 more
openaire +3 more sources
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
doaj +1 more source
Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy
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 +5 more
doaj +1 more source
Muscle and Nerve, 2023 As promising therapeutic interventions are tested among patients with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and reliable outcome tools to track disease progression and therapeutic gain in clinical trials and for ...
A. Varma +12 more
semanticscholar +1 more source
Facioscapulohumeral muscular dystrophy in the dutch population [PDF]
Muscle & Nerve, 1995 Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found ...
Padberg, G.W.A.M. +5 more
openaire +5 more sources
Distrofias musculares en el paciente adulto
Revista Médica Clínica Las Condes, 2018 RESUMEN: Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos, progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la musculatura estriada esquelética.
Nicholas Earle, MD +1 more
doaj +1 more source
Neuromuscular Disorders, 2023 Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease, that causes weakness and wasting of skeletal muscles. In this cross-sectional cohort-study on FSHD patients, we assessed muscle ultrasound findings and their relation to ...
S. Vincenten +5 more
semanticscholar +1 more source
Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review
Cureus, 2023 Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric muscle weakness that involves the facial, scapular, and upper arm muscles mainly. Currently, there
Alex S. Aguirre +8 more
semanticscholar +1 more source
Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments
International Journal of Molecular Sciences, 2023 Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy.
E. Duranti, C. Villa
semanticscholar +1 more source
Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]
, 2011 Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core +1 more source