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Facioscapulohumeral muscular dystrophy.
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2021 Jana, Pospisilova +2 more
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Facioscapulohumeral muscular dystrophy
Muscle and Nerve, 2006 AbstractFacioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disorder with an initially restricted pattern of weakness. Early involvement of the facial and scapular stabilizer muscles results in a distinctive clinical presentation. Progression is descending, with subsequent involvement of either the distal anterior leg or hip‐girdle ...
Silvère M van der Maarel, Rabi Tawil
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Facioscapulohumeral muscular dystrophy [PDF]
Current Opinion in Neurology, 2009 Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front.The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle ...
Padberg, G.W.A.M., Engelen, B.G.M. van
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Facioscapulohumeral muscular dystrophy
Ryoikibetsu shokogun shirizu, 2001Abstract The defining clinical features include the onset of weakness of the facial or shoulder girdle muscles, leading eventually to the wasting of these muscles (Fig. 8.1). Significant facial weakness is evident in more than half of all affected FSHD patients.
Meena Upadhyaya, David N. Cooper
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Facioscapulohumeral Muscular Dystrophy
ContinuumFacioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy, affecting individuals across the lifespan with variable severity. This article provides an overview of the distinctive genetic mechanisms underlying FSHD, its clinical manifestations, including pediatric-specific features, treatment, and the evolving ...
Natalie K. Katz, Jeffrey M. Statland
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Facioscapulohumeral Muscular Dystrophy
Comprehensive Physiology, 2017ABSTRACT Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities.
DeSimone, Alec M. +3 more
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Muscle and Nerve, 2023
In our experience, patients with late‐onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) are frequently misdiagnosed, some for many years. The aim of this report is to document this clinical experience including the presenting symptoms and ...
K. Felice, Charles H. Whitaker
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In our experience, patients with late‐onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) are frequently misdiagnosed, some for many years. The aim of this report is to document this clinical experience including the presenting symptoms and ...
K. Felice, Charles H. Whitaker
semanticscholar +1 more source
Brain : a journal of neurology, 2022
Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common muscular dystrophy.
Hannes Erdmann +21 more
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Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common muscular dystrophy.
Hannes Erdmann +21 more
semanticscholar +1 more source
Acta myologica
Objectives Some muscular dystrophies, such as myotonic dystrophy type 1 and 2 (DM1 and DM2), facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD), are caused by genetic mutations that may affect the expression and ...
Naman Bareja +4 more
semanticscholar +1 more source
Objectives Some muscular dystrophies, such as myotonic dystrophy type 1 and 2 (DM1 and DM2), facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD), are caused by genetic mutations that may affect the expression and ...
Naman Bareja +4 more
semanticscholar +1 more source