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French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
J Neurol
September 2024
Peripheral Nervous System and Muscle Department, Université Côte d'Azur, CHU Nice, Pasteur 2, Nice Hospital, France.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to other muscle groups, particularly the abdominal and lower limb muscles.
View Article and Find Full Text PDFCochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1).
Otol Neurotol
January 2021
Department of Systems Medicine, Neuromuscular Diseases Unit.
Introduction: Facioscapulohumeral muscular dystrophy type 1 (FSHD) represents one of the most common forms of muscular hereditary diseases and it is characterized by a great clinical variability with the typical muscular symptoms and other clinical features, including hearing impairment. However, etiopathogenetic mechanisms of auditory dysfunction are still not completely understood and it has been suggested that it could be assigned to a cochlear alteration that is present even in those subjects with a normal pure tonal audiometry (PTA) examination.
Methods: We found out the cochlear function in 26 patients with molecular diagnosis of FSHD1 and in healthy controls.
Ophthalmological findings in facioscapulohumeral dystrophy.
Brain Commun
October 2019
Department of Ophthalmology, Radboud University Medical Centre, Nijmegen HB, The Netherlands.
Ophthalmological abnormalities in facioscapulohumeral dystrophy may lead to treatable vision loss, facilitate diagnostics, could help unravelling the pathophysiology and serve as biomarkers. In this study, we provide a detailed description of the ophthalmological findings in a well-defined cohort of patients with facioscapulohumeral dystrophy using state of the art retina imaging techniques. Thirty-three genetically confirmed patients (aged 7-80 years) and 24 unrelated healthy controls (aged 6-68 years) underwent clinical ophthalmological examination, fundus photography, optical coherence tomography/angiography, genotyping and neurological examination.
View Article and Find Full Text PDFCorrection to: Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance.
J Cardiovasc Magn Reson
June 2019
Working Group on Cardiovascular Magnetic Resonance, Experimental and Clinical Research Center a joint cooperation between the Charité - Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch,Department of Cardiology and Nephrology, Berlin, Germany.
In the original version of this article [1], published on 29 April 2019, there is 1 error in the 'Method' section of the article.
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