Results 21 to 30 of about 7,021 (220)

The socioeconomic burden of facioscapulohumeral muscular dystrophy [PDF]

Journal of Neurology, 2021
AbstractBackgroundPromising genetic therapies are being investigated in facioscapulohumeral muscular dystrophy (FSHD). However, the current cost of illness is largely unknown.ObjectiveThis study aimed at determining the socioeconomic burden of FSHD.MethodsAdult patients with FSHD from the Dutch FSHD registry were invited to complete a questionnaire on ...
Anna M. Blokhuis, Johanna C. W. Deenen, Nicol C. Voermans, Baziel G. M. van Engelen, Wietske Kievit, Jan T. Groothuis   +5 more
openaire   +4 more sources

Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double-blind placebo-controlled crossover trial. [PDF]

Pharmacotherapy
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a rare, progressive muscle disease with no available disease‐modifying therapy. Creatine monohydrate (CrM) has been shown to improve muscle strength in individuals with muscular dystrophies but has not been tested in young people with FSHD.
Woodcock IR, de Valle K, Cairns A, Davidson ZE, Kean M, Varma N, Grobler A, Metz D, Carroll K, Dilek N, Heatwole C, Ryan MM, Delatycki MB, Yiu EM.   +13 more
europepmc   +2 more sources

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis.
Sacconi, Sabrina, SALVIATI, LEONARDO, Desnuelle, Claude   +2 more
openaire   +6 more sources

Characterizing the face in facioscapulohumeral muscular dystrophy [PDF]

Journal of Neurology, 2020
AbstractObjectiveTo evaluate facial weakness in patients with FSHD to better define clinical signs, and pilot a facial weakness severity score.Methods87 FSHD patients and 55 controls were video recorded while performing seven facial tasks. The videos were assessed by three independent examiners to compile an overview of signs of facial weakness.
Nicol C. Voermans, Sanne C. C. Vincenten, B.G.M. van Engelen, Karlien Mul, Thomas J.J. Maal, George W. Padberg, C. H. G. Beurskens, T. G. J. Loonen, T. G. J. Loonen, Corinne G.C. Horlings, Jeffrey Statland, S. Knuijt   +11 more
openaire   +4 more sources

Dysphagia in facioscapulohumeral muscular dystrophy [PDF]

Neurology, 2006
Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The authors conclude that dysphagia should not be considered an
Wohlgemuth, M., Swart, B.J.M. de, Kalf, J.G., Joosten, F.B.M., Vliet, A.M. van der, Padberg, G.W.A.M.   +5 more
openaire   +4 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

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   +6 more sources

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