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Bedside evaluation of large motor units in childhood spinal muscular atrophy [PDF]
Neurology, 1979 One hundred patients with motor unit disease were examined to determine the diagnostc reliability of several clinical signs of large motor units. These signs were high-intensity, low-pitched rumbling on skeletal muscle auscultation, voluntary contraction fasciculations, contraction fasciculation trembling, and palpable contraction fasciculations. Among
Barry S. Russman, Edward J. Fredericks
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Benign spinal muscular atrophy arising in childhood and adolescence
Journal of the Neurological Sciences, 1967Abstract The clinical, electromyographic and histological features are described in 15 patients suffering from juvenile benign spinal muscular atrophy. Two had had sibs who died in early childhood with similar but more severe symptoms and short comments on these 2 cases are included.
D. Gardner-Medwin +2 more
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Use of the ECG in the Diagnosis of Childhood Spinal Muscular Atrophy
Archives of Neurology, 1979The appearance of tremors in patients with childhood, chronic spinal muscular atrophy has been known for years. We were struck by the presence of a "muscle tremor" artifact in the ECGs of all our patients with this diagnosis. This observation has not been noted previously.
Edward J. Fredericks, Barry S. Russman
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Seminars in Pediatric Neurology, 2002
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in
C. Cifuentes-Díaz +2 more
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Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in
C. Cifuentes-Díaz +2 more
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Abnormal fatty acid metabolism in childhood spinal muscular atrophy
Annals of Neurology, 1999Our previous experience with abnormal fatty acid metabolism in several children with spinal muscular atrophy (SMA) prompted evaluation of fatty acid metabolism in a larger cohort. Thirty-three infants with severe infantile SMA were shown to have a significantly increased ratio of dodecanoic to tetradecanoic acid in plasma compared with normal infants ...
Orest Hurko +4 more
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Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.
Human Heredity, 1993We have previously reported the mapping of the chronic (type II/intermediate and type III/mild/Kugelberg-Welander) form of the childhood-onset spinal muscular atrophies (SMA) to chromosome 5q11.2-13.3, with evidence for nonallelic genetic heterogeneity ...
L. Brzustowicz +9 more
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Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy
Revue Neurologique, 2012Typical childhood spinal muscular atrophy is a disease that affects the anterior horn of the spinal cord related to SMN1 gene defects. Since no etiological treatment is currently available, its management is necessarily symptomatic and involves multidisciplinary care.
J.-M. Cuisset, B. Estournet
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Chronic from of childhood spinal muscular atrophy
Journal of the Neurological Sciences, 1979The authors discuss the differences between the two large series of chronic childhood spinal muscular atrophies (SMA)--their own comprising 273 cases, and that of Pearn et al. comprising 141 cases. The main difference concerns the predominance of males in the clinically milder later-onset group in the present series. The data of Pearn et al. (1978a, b)
Irena Hausmanowa-Petrusewicz +2 more
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Neuropediatrics, 2018
To evaluate the potential bone defect in neuromuscular diseases, we conducted a longitudinal study including three groups of patients: 14 Duchenne muscular dystrophies (DMD) and 2 limb-girdle muscular dystrophies (LGMD); 3 Becker muscular dystrophies ...
C. Ribstein +6 more
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To evaluate the potential bone defect in neuromuscular diseases, we conducted a longitudinal study including three groups of patients: 14 Duchenne muscular dystrophies (DMD) and 2 limb-girdle muscular dystrophies (LGMD); 3 Becker muscular dystrophies ...
C. Ribstein +6 more
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Muscle disorders in childhood.
Israel journal of medical sciences, 1977Preface. Diagnosis and Classification of the Neuromuscular Disorders. The Muscular Dystrophies. The Congenital Myopathies. Metabolic Myopathies I: Glycogenoses. Metabolic Myopathies II: Lipid Disorders. Mitochondrial Disorders.
V. Dubowitz
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