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 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...
متن کاملSpinal muscular atrophy diagnostics.
Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN), which exists in 2 nearly identical copies (SMN1 and SMN2). Exon 7 of SMN1 is homozygously absent in about 95% of spinal muscular atrophy patients, whereas the loss of SMN2 does not cause spinal muscular atrophy. Small mutations are found in the other 5% of ...
متن کاملSpinal muscular atrophy (SMA).
? Multiple Choice Questions Section The Neuroscience Journal introduces this new section on multiple choice questions as part of its commitment to continuous education and learning in Neurosciences. Experts in various neuroscience specialties are invited to participate with their knowledge and expertise in this section. Neurology, neurosurgery, and other board residents are encouraged to read t...
متن کاملDistal spinal muscular atrophy.
Spinal muscular atrophies (SMA) are clinically heterogenous group of motor system disorders characterised by progressive pure lower motor neuron involvement. The distal form of SMA is an extremely rare disorder, which presents in the adults and has a relatively slow progression with almost no effect on the patients' life-span. Differential diagnosis of this syndrome include other forms of neuro...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1990
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-4-2-2