Anesthetic management of a child with spinal muscular atrophy
Amrita Journal of Medicine, 2023 Spinal muscular atrophy (SMA) is a rare autosomal disorder associated with degeneration of motor neurons. Bulbar dysfunction predisposes to aspiration. We present the anesthetic management of a child with SMA managed with general anesthesia and abdominal
Dimple E Thomas +3 more
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Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]
, 2013 BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H. +4 more
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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]
, 2016 Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff ...
Azzouz, Mimoun +15 more
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Frontiers in Cellular and Infection Microbiology, 2023 Spinal muscular atrophy (SMA) is a neurodegenerative disease that results in progressive and symmetric muscle weakness and atrophy of the proximal limbs and trunk due to degeneration of spinal alpha-motor neurons.
Bingqing Cao, Ling Cao
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Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy. [PDF]
, 2016 Spinal muscular atrophy (SMA) is an early-onset motor neuron disease that leads to loss of muscle function. Butyrate (BA)-based compounds markedly improve the survival and motor phenotype of SMA mice.
Butchbach, Matthew E.R. +1 more
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Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA. [PDF]
PLoS ONE, 2016 PURPOSE:The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. We investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness ...
Mohamed-Mounir El Mendili +12 more
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Research progress of spinal muscular atrophy treatment in children
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Spinal muscular atrophy (SMA) is the most common fatal neurogenetic disease in infant period. Clinical manifestations of SMA include symmetrical and progressive weakness and atrophy of proximal limbs.
Miao ZHAO +3 more
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SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
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Spinal Muscular Atrophy With Myoclonic Epilepsy
Archives of Epilepsy, 2017 Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Buket ÖZKARA, Faik BUDAK
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Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
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