Results 211 to 220 of about 1,822 (274)

Childhood spinal muscular atrophy

, 2023
Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal brainstem.
David S. Younger, Jerry R. Mendell
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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 ...
Sam Benady
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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 ...
Virginia Wong, Vivian Chan
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Microcephaly and Mental Subnormality in Chronic Progressive Spinal Muscular Atrophy of Childhood

Developmental Medicine & Child Neurology, 1967
SUMMARYA wide variety of clinical manifestations are encountered in the various forms of progressive spinal muscular atrophy of childhood. The family reported here illustrates the relatively slowly progressive form of this disease. The presence of mental subnormality and microcephaly in this family is an unusual finding.Electromyographic and or muscle ...
Alfred J. Spiro, M. Harold Fogelson, Albert C. Goldberg   +2 more
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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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A clinical study of chronic childhood spinal muscular atrophy

Journal of the Neurological Sciences, 1978
The case histories and clinical details of 141 children (67 males and 74 females) with chronic childhood spinal muscular atrophy (SMA) have been reviewed. Hundred of these children were alive at the time of the study. The cases comprise a consecutive unselected series of all with this disease who presented to two large English neurological centres over
John Pearn, D. Gardner‐Medwin, John Wilson   +2 more
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On chaos in classification of childhood spinal muscular atrophy

Neuromuscular Disorders, 1992
I Hausmanowa-Pétrusewicz, Barbara Badurska-Modrzycka, Barbara Ryniewicz   +2 more
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Progressive Spinal Muscular Atrophy with Onset in Infancy or Early Childhood

Acta Paediatrica, 1967
Ingrid Gamstorp
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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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Electrocardiographic abnormalities in childhood spinal muscular atrophy

International Journal of Cardiology, 1989
Tremors of the isoelectric line in routine electrocardiograms have been described in patients with spinal muscular atrophy and have been interpreted as fasciculations of denervated muscles. In order to evaluate this phenomenon, 13 patients with spinal muscular atrophy have been studied (average age: 37.3 months).
Gabriella Porro, Pasquale Carboni, Claudio Coletta, Vincenzo Bacci, Carunchio A   +4 more
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