Results 31 to 40 of about 8,309 (264)

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both ...
Maarel, S.M. van der, Frants, R.R., Padberg, G.W.A.M.   +2 more
openaire   +4 more sources

Medium to long-term outcome of thoracoscapular arthrodesis with screw fixation for facioscapulohumeral muscular dystrophy [PDF]

, 2013
Background: Shoulder girdle muscle weakness is the most constant feature of facioscapulohumeral muscular dystrophy and leads to scapular winging. Mechanical fixation of the scapula to the thoracic wall provides a stable fulcrum on which the deltoid ...
Atoun, Ehud, Copeland, Stephen, Levy, Ofer, Narvani, Ali, Sforza, Giuseppe, Van Tongel, Alexander   +5 more
core   +2 more sources

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   +7 more sources

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources

The Facioscapulohumeral Muscular Dystrophy Rasch‐Built Overall Disability Scale (FSHD‐RODS): Longitudinal Assessment of a Disease‐Specific Patient Reported Outcome [PDF]

Eur J Neurol
ABSTRACT Objective To assess changes in the facioscapulohumeral muscular dystrophy Rasch‐Built Overall Disability Scale (FSHD‐RODS) over 6.5 years in FSHD patients. Methods FSHD patients of 18 years or older were assessed at baseline (T1) and followed up at 5 years (T2) and 6.5 years (T3).
Teeselink S, Vincenten S, Voermans N, van Alfen N, van Engelen B, Mul K.   +5 more
europepmc   +2 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

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2007
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B., Sackley, Catherine, Turner-Stokes, Lynne, Wade, Derick T.   +3 more
core   +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

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD [PDF]

, 2015
Background: Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2).
B Mifsud, C Huichalaf, C Wijmenga, E Lieberman-Aiden, I Dunham, J Dekker, J Winston, KS Pollard, L Daxinger, LM Hartweck, M Larsen, M Richards, M Upadhyaya, MP Creyghton, N Harmston, R Andersson, RE Thurman, RJ Lemmers, RJ Lemmers, RJ Lemmers, S Bhatia, S Sacconi, SE Hamby, SS Rao, TI Jones, W Zeng, Z Yao   +26 more
core   +2 more sources

Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core   +1 more source