Developing therapies for spinal muscular atrophy
نویسندگان
چکیده
منابع مشابه
Spinal Muscular Atrophy: A Short Review Article
Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...
متن کاملDevelopment and Translation of Therapies for Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by widespread loss of lower motor neurons from the spinal cord, leading to progressive weakness and muscle atrophy. SMA is largely caused by homozygous loss of the survival motor neuron (SMN) 1 gene, resulting in reduced levels of full-length SMN protein. Although no approved treatment is currently avai...
متن کاملEmerging therapies and challenges in spinal muscular atrophy
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (type I) to limited motor neuron loss and normal life expectancy (type IV). Without disease-modifying therapies, the impact is profound for patients and their families. Improved understanding of the molecular basis of SMA, disease pathogenesis, n...
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Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (http...
متن کاملSpinal Muscular Atrophy Panel
Test code: NE1801 The Blueprint Genetics Spinal Muscular Atrophy Panel is a 27 gene test for genetic diagnostics of patients with clinical suspicion of distal hereditary motor neuropathy or spinal muscular atrophy. Spinal muscular atrophies (SMAs) are inherited in an autosomal dominant, autosomal recessive or X-linked manner. In addition to deletion or gene conversion of SMN1 and copy number va...
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ژورنال
عنوان ژورنال: Annals of the New York Academy of Sciences
سال: 2015
ISSN: 0077-8923
DOI: 10.1111/nyas.12813