Results 221 to 230 of about 2,481 (285)

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.
Anna Fidziańska
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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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Current Concepts in Childhood Spinal Muscular Atrophy

Archives of Pediatrics & Adolescent Medicine, 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 ...
P. C. Ferry
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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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Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Gene, 2012
Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms.
Khaled R. Gaber, Ashraf A. El-Harouni, Mona L. Essawi, Ghada M. Al-Attribi   +3 more
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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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Chaos in classification of the spinal muscular atrophies of childhood

Neuromuscular Disorders, 1991
V. Dubowitz
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