Results 21 to 30 of about 3,619 (165)

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., Frants, R.R., Brouwer, O.F., Wijmenga, C., Bakker, E., Sandkuijl, L.A.   +5 more
openaire   +5 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, L. A. Katargina, L. V. Kogoleva, M. V. Belova, N. A. Osipova, E. V. Fedoseeva   +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, Kathryn A. Vera, Mary McConville, Michael Kyba, Manda L. Keller-Ross, Manda L. Keller-Ross   +5 more
doaj   +1 more source

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, Jorge A. Bevilacqua, MD, PhD   +1 more
doaj   +1 more source

Early onset facioscapulohumeral muscular dystrophy [PDF]

Muscle & Nerve, 1995
We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD.
Brouwer, O.F., Padberg, G.W.A.M., Bakker, E., Wijmenga, C., Frants, R.R.   +4 more
openaire   +6 more sources

Orofacial Manifestations Associated with Muscular Dystrophies: A Review

Turkish Journal of Orthodontics, 2022
The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy ...
Petros Papaefthymiou, Kyriaki Kekou, Fulya Özdemir   +2 more
doaj   +1 more source

Facioscapulohumeral Muscular Dystrophy

Neurotherapeutics, 2004
Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions.
openaire   +6 more sources

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, King, Oliver D., Robin, Jerome D., Shay, Jerry W., Wright, Woodring E.   +4 more
openaire   +3 more sources

Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA

Cell Reports, 2018
Summary: Double homeobox (DUX) transcription factors are unique to eutherian mammals. DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and ...
John K. Lee, Darko Bosnakovski, Erik A. Toso, Tracy Dinh, Surajit Banerjee, Thomas E. Bohl, Ke Shi, Kayo Orellana, Michael Kyba, Hideki Aihara   +9 more
doaj   +1 more source

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy

Frontiers in Genome Editing, 2022
Facioscapulohumeral dystrophy (FSHD) is a skeletal muscle disease caused by the aberrant expression of the DUX4 gene in the muscle tissue. To date, different therapeutic approaches have been proposed, targeting DUX4 at the DNA, RNA or protein levels. The
Virginie Mariot, Julie Dumonceaux
doaj   +1 more source