Results 171 to 180 of about 4,991 (181)

Facioscapulohumeral Muscular Dystrophies

Continuum, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult patients. This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials.As the name implies, FSHD involves weakness of facial muscles, muscles that fix the
openaire   +2 more sources

Facioscapulohumeral muscular dystrophy

Current Opinion in Neurology, 1999
A decade's progress in facioscapulohumeral muscular dystrophy genetics has been marked by the discovery of novel genetic phenomena such as crossover of subtelomeric DNA between chromosomes 4 and 10 in normal individuals and by the recognition that the facioscapulohumeral muscular dystrophy deletion-mutation may cause a position variegation effect on ...
openaire   +2 more sources

SCAPULOTHORACIC FUSION FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

The Journal of Bone and Joint Surgery-American Volume, 2005
Facioscapulohumeral muscular dystrophy causes winging of the scapula and weakness and discomfort of the shoulder. Surgical stabilization of the scapula to the posterior part of the chest wall permits shoulder abduction and flexion by the deltoid muscle.
Mohammad, Diab, Basil T, Darras, Frederic, Shapiro   +2 more
openaire   +2 more sources

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy

Cardiology, 2005
Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal.
Josef, Finsterer, Claudia, Stöllberger, Gerhard, Meng   +2 more
openaire   +2 more sources

Mobius Syndrome and Facioscapulohumeral Muscular Dystrophy

Archives of Neurology, 1971
CONGENITAL facial diplegia, or Mobius syndrome, is usually considered to be a static disorder. Recently, however, there have been reports of myotonic dystrophy presenting with facial weakness in the newborn period. 1,2 ; some cases of Mobius syndrome may therefore be due to progressive disease.
P A, Hanson, L P, Rowland
openaire   +2 more sources

Genetic mapping of facioscapulohumeral muscular dystrophy

1993
Facioscapulohumeral muscular dystrophy (FSHD) is a well described neuromuscular disorder with an autosomal dominant inheritance pattern. The molecular defect underlying FSHD is unknown and lack of biochemical and physiological markers precluded a reliable presymptomatic diagnosis. Therefore, chromosomal localization of the FSHD gene by linkage analysis
C, Wijmenga, M H, Hofker, G W, Padberg, R R, Frants   +3 more
openaire   +2 more sources

Facioscapulohumeral muscular dystrophy

Journal of Neurology, 2003
Miriam Butz, M. C. Koch, W. Muller-Felber, R. J. L. F. Lemmers, S. M. van der Maarel, H. Schreiber   +5 more
openaire   +1 more source

Facioscapulohumeral Muscular Dystrophy

2023
Johanna Hamel, Rabi Tawil
openaire   +1 more source

Facioscapulohumeral Muscular Dystrophy

American Journal of Physical Medicine & Rehabilitation, 1995
David D. Kilmer, Richard T. Abresch, Megan A. McCrory, Gregory T. Carter, William M. Fowler, E Ralph Johnson, Craig M. McDonald   +6 more
openaire   +1 more source

Ultrarare Muscular Dystrophy Mimics Facioscapulohumeral Muscular Dystrophy

Pediatric Neurology
Bret J. Gardner, Meeta Cardon
openaire   +2 more sources