Results 261 to 270 of about 116,069 (304)
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Current Neurology and Neuroscience Reports, 2007
Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle ...
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Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle ...
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Seminars in Pediatric Neurology, 1991
About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
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About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
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Journal of the American Veterinary Medical Association, 1982
SUMMARY Between January 1973 and June 1981, a total of 21 nyalas (Tragelaphus angasi) died with clinical and/or pathologic evidence of myopathy. The main clinical signs were stiffness, inability to rise, and failure to suckle in newborn fawns. Death usually occurred without premonitory signs of disease. Gross lesions were characterized by white or pale
S, Liu +4 more
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SUMMARY Between January 1973 and June 1981, a total of 21 nyalas (Tragelaphus angasi) died with clinical and/or pathologic evidence of myopathy. The main clinical signs were stiffness, inability to rise, and failure to suckle in newborn fawns. Death usually occurred without premonitory signs of disease. Gross lesions were characterized by white or pale
S, Liu +4 more
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Annals of Neurology, 1985
AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S. +4 more
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AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S. +4 more
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Revue Neurologique, 2013
Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Current Opinion in Neurology, 2022
Purpose of review Oculopharyngodistal myopathy (OPDM) is a rare adolescent or adult-onset neuromuscular disease that is characterized by progressive ocular, facial, pharyngeal and distal limb muscle weakness. The rimmed vacuoles and intranuclear inclusions in myofibers constitute the pathological hallmark of OPDM.
Jiaxi, Yu, Jianwen, Deng, Zhaoxia, Wang
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Purpose of review Oculopharyngodistal myopathy (OPDM) is a rare adolescent or adult-onset neuromuscular disease that is characterized by progressive ocular, facial, pharyngeal and distal limb muscle weakness. The rimmed vacuoles and intranuclear inclusions in myofibers constitute the pathological hallmark of OPDM.
Jiaxi, Yu, Jianwen, Deng, Zhaoxia, Wang
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Seminars in Pediatric Neurology, 1996
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies among the fatty acid ...
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Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies among the fatty acid ...
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Acta Clinica Belgica, 2004
Primary myositis (or inflammatory myopathies) comprises three main groups of diseases, based on clinical and immunohistochemical characteristics: polymyositis (PM), dermatomyositis (DM) and inclusion body myositis. Their clinical presentation and course are disparate, but a common characteristic is immune dysfunction-related inflammation of the ...
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Primary myositis (or inflammatory myopathies) comprises three main groups of diseases, based on clinical and immunohistochemical characteristics: polymyositis (PM), dermatomyositis (DM) and inclusion body myositis. Their clinical presentation and course are disparate, but a common characteristic is immune dysfunction-related inflammation of the ...
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Journal of Neurology, 2019
Scleromyxedema is a chronic, idiopathic disorder associated with monoclonal gammopathy, and characterized by dermal mucin deposition. However, systemic manifestations are frequent, including neuromuscular symptoms. We herein present a 71-year-old man who developed a vacuolar myopathy in a context of a known scleromyxedema, and we compare our ...
Antoine Soulages +9 more
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Scleromyxedema is a chronic, idiopathic disorder associated with monoclonal gammopathy, and characterized by dermal mucin deposition. However, systemic manifestations are frequent, including neuromuscular symptoms. We herein present a 71-year-old man who developed a vacuolar myopathy in a context of a known scleromyxedema, and we compare our ...
Antoine Soulages +9 more
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2013
Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor ...
Norma Beatriz, Romero, Nigel F, Clarke
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Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor ...
Norma Beatriz, Romero, Nigel F, Clarke
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