Results 201 to 210 of about 1,154 (251)

Childhood spinal muscular atrophy: controversies and challenges

The Lancet Neurology, 2012
Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene SMN1. The severity of spinal muscular atrophy is highly variable and no cure is available at present.
Mercuri, Eugenio Maria, Bertini, E, Iannaccone, St   +2 more
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Spinal muscular atrophy in childhood

Seminars in Pediatric Neurology, 1996
Diagnosis and classification of spinal muscular atrophy (SMA) in childhood are based on clinical, electrophysiological, and histological studies. The concept of maturational arrest of motoneurons and their targets (muscle cells in SMA type I) is documented by ultrastructural and immunohistochemical data.
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Benign spinal muscular atrophy arising in childhood and adolescence

Journal of the Neurological Sciences, 1967
Abstract 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, P, Hudgson, J N, Walton   +2 more
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Use of the ECG in the Diagnosis of Childhood Spinal Muscular Atrophy

Archives of Neurology, 1979
The 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.
B S, Russman, E J, Fredericks
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SMN2-deletion in childhood-onset spinal muscular atrophy

American Journal of Medical Genetics, 2001
The human genome has two homologous survival motor neuron genes, SMN1 and SMN2. Although deletions of SMN1 are frequently reported in childhood-onset spinal muscular atrophy (SMA), SMN2 have been found to be intact in patients with the disorder. We report on a 5-year-old boy with childhood-onset SMA who has a homozygous deletion of SMN2. He had wasting,
S, Srivastava, M, Mukherjee, I, Panigrahi, G, Shanker Pandey, S, Pradhan, B, Mittal   +5 more
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Molecular Genetic Study of a Childhood Form of Spinal Muscular Atrophy

Journal of Child Neurology, 2001
Molecular genetic studies were performed in 28 cases of childhood-onset spinal muscular atrophy (24 unrelated families). This consisted of type 1 (severe) (n = 5), type 2 (intermediate form) (n = 8), and type 3 (mild) (n = 15). Deletion of exons 7 and 8 of the SMNt gene was found in 100%, 100%, and 93%, respectively, in type 1, 2, and 3 spinal muscular
Chan, V, Wong, V
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Rehabilitation practices for childhood spinal muscular atrophy

Disability and Rehabilitation
Spinal muscular atrophy (SMA) is a neuromuscular condition characterized by muscle weakness and impaired motor function. The introduction of disease modifying treatments, such as gene therapy, have significantly improved prognosis. Children with SMA now have the potential for active rehabilitation, but limited evidence exists to guide rehabilitation ...
Patricia Mortenson, Julia Cielecka, Emma Harrison, Jill G. Zwicker   +3 more
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Current concepts in childhood spinal muscular atrophy

Neuromuscular Disorders, 1991
There has been a surge of interest in neuromuscular disease in the past 2 years, sparked primarily by major genetic discoveries. While initial attention focused appropriately on Duchenne muscular dystrophy, the momentum has now swung to the spinal muscular atrophies, which, the authors note, are equally frequent and no less important in childhood ...
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Spinal Muscular Atrophy in Childhood: Review of 50 Cases

Developmental Medicine & Child Neurology, 1978
SUMMARYThe clinical findings in 50 children with intermediate or mild spinal muscular atrophy are reviewed.An early age of onset and the presence of tongue fasciculation carry a poor prognosis for disability. Scoliosis appears early in nearly all children with the more severe forms of spinal muscular atrophy and early energetic treatment is indicated ...
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Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy

Revue Neurologique, 2012
Typical 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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