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The Journal of Pediatrics, 1989
We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made.
Q H, Leyten +5 more
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We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made.
Q H, Leyten +5 more
openaire +2 more sources
Progressive Muscular Dystrophy
Postgraduate Medicine, 1964There is at present no effective treatment for progressive muscu'ar dystrophy. The main hope for the future lies in the research now being conducted. The three common varieties are the Duchenne, limb-girdle and facioscapulohumeral types. Accurate classification is essential since they differ considerably in age of onset, rate of progress, and mode of ...
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Oculopharyngeal muscular dystrophy
2010Publisher Summary Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is usually transmitted as an autosomal dominant trait and a rarer allelic autosomal recessive form has also been ...
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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,
openaire +2 more sources
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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