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Childhood muscular dystrophies
2023Infancy- and childhood-onset muscular dystrophies are associated with a characteristic distribution and progression of motor dysfunction. The underlying causes of progressive childhood muscular dystrophies are heterogeneous involving diverse genetic pathways and genes that encode proteins of the plasma membrane, extracellular matrix, sarcomere, and ...
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Congenital muscular dystrophies
Current Opinion in Neurology, 1995Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it ...
K, Arahata, H, Ishii, Y K, Hayashi
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2011
Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or feet. Extensive progress in understanding the molecular genetic background has changed the classification and extended the list of confirmed entities to almost 20 different disorders,
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Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or feet. Extensive progress in understanding the molecular genetic background has changed the classification and extended the list of confirmed entities to almost 20 different disorders,
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Progressive muscular dystrophies
2013Infancy- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, cardiac and respiratory functions, while those of late onset may be mild and associated with slight weakness or fatigability induced by effort.
Jamel, Chelly, Isabelle, Desguerre
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Facioscapulohumeral muscular dystrophy
Current Opinion in Neurology, 2009Knowledge 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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The Lancet, 2002
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
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The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
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Facioscapulohumeral Muscular Dystrophy
Comprehensive Physiology, 2017ABSTRACTFacioscapulohumeral 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. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex ...
DeSimone, Alec M. +3 more
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Oculopharyngeal muscular dystrophy: the muscular dystrophies
2001Abstract Sweden, Switzerland, Czech Republic, Taiwan, United Kingdom, United States, Uzbekistan, Uruguay and Yugoslavia. However, OPMD is particularly prevalent in the French–Canadian population (1 1000) and in Bukhara Jews living in Israel (1: 600) (Blumen et al. 1997; Brais et al. 1995).
Bernard Brais, Fernando M S Tomè
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Oculopharyngeal Muscular Dystrophy
Seminars in Neurology, 1999Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide distribution. It usually presents in the fifth or sixth decades with progressive dysphagia, eyelid ptosis, and proximal limb weakness. Unique intranuclear filament inclusions in skeletal muscle fibers are its morphological hallmark. Surgical correction
B, Brais +4 more
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Current Opinion in Genetics & Development, 1991
Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
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Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
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