Results 151 to 160 of about 608,413 (188)
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2013
Spinal muscular atrophies (SMA) are genetic disorders characterized by degeneration of lower motor neurons. The most frequent form is caused by mutations of the survival motor neuron 1 gene (SMN1). The identification of this gene greatly improved diagnostic testing and family-planning options of SMA families.
Louis, Viollet, Judith, Melki
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Spinal muscular atrophies (SMA) are genetic disorders characterized by degeneration of lower motor neurons. The most frequent form is caused by mutations of the survival motor neuron 1 gene (SMN1). The identification of this gene greatly improved diagnostic testing and family-planning options of SMA families.
Louis, Viollet, Judith, Melki
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Pregnancy and spinal muscular atrophy
Journal of Neurology, 1992We investigated the course and outcome of pregnancy and its influence on muscle weakness in 12 females with proximal spinal muscular atrophy (SMA) who delivered a total of 17 infants when aged 18-32 years. In 4 females the SMA clearly followed an autosomal recessive mode of inheritance.
S, Rudnik-Schöneborn +3 more
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Seminars in Neurology, 1998
The history of the spinal muscular atrophies (SMA) began in the 1890s with Guido Werdnig and Johann Hoffmann. Together, their papers present a rather complete picture of the clinical and pathologic aspects of infantile SMA: onset during the first year of life, occurrence in siblings with normal parents, progressive floppiness and weakness, hand tremor,
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The history of the spinal muscular atrophies (SMA) began in the 1890s with Guido Werdnig and Johann Hoffmann. Together, their papers present a rather complete picture of the clinical and pathologic aspects of infantile SMA: onset during the first year of life, occurrence in siblings with normal parents, progressive floppiness and weakness, hand tremor,
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Childhood spinal muscular atrophy
2023Spinal 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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Current Opinion in Neurology, 1997
Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism.
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Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism.
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Bone and Spinal Muscular Atrophy
Bone, 2015Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease, leading to progressive denervation atrophy in the involved skeletal muscles. Bone status has been poorly studied. We assessed bone metabolism, bone mineral density (BMD) and fractures in 30 children (age range 15-171 months) affected by SMA types 2 and 3.
Silvia Vai +8 more
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CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
The Lancet, 1980Clinical heterogeneity within the spinal muscular atrophies (SMA) has long been a source of confusion for questions of prognosis and genetic counselling. Comprehensive clinical and genetic analyses of 240 consecutive index cases from two English centres (The English SMA Study) have enabled some nosological questions to be resolved.
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Spinal Muscular Atrophy in the Neonate
Journal of Obstetric, Gynecologic & Neonatal Nursing, 2004Spinal muscular atrophy (SMA) type I is an autosomal recessive disorder characterized by loss of lower motor neurons in the spinal cord. This severe hereditary neurodegenerative disorder is an important cause of morbidity in the neonate and the leading hereditary cause of infant mortality.
Jennifer A, Markowitz +2 more
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Treatment of spinal muscular atrophy
Current Opinion in PediatricsPurpose of review The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported.
Pera M. C., Mercuri E.
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Spinal Muscular Atrophy: An Update
Fetal and Pediatric Pathology, 2011Spinal muscular atrophy (SMA) is the most common childhood neurodegenerative disease. We report an infant with SMA type 1 and discuss the recent developments in SMA genetics, pathophysiology, and possible treatment options. Because SMA type 1 remains a fatal illness for which there is not yet a cure, the focus of patient care continues to be ...
Tracy, Chang, Maria, Gieron-Korthals
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