spinal muscular atrophy

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spinal muscular atrophy

n.
Any of several forms of a hereditary, progressive disease that involves loss of motor neurons in the spinal cord and brainstem and is characterized by muscle weakness and atrophy that vary in severity and age of onset.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.
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According to MDA, Zolgensma is a one-time intravenous (into the vein) infusion for the treatment of paediatric patients less than two years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene, including pre-symptomatic at diagnosis.
The survival motor neuron gene 1 ( SMN1 ) encodes the full-length, and functional SMN protein and mutations in this gene are associated with SMA.
[4] Normally, SMN1 genes produce fully functional SMN protein but this production is insufficient in the case of SMA.
A similar approach has been shown to distinguish copy number changes between the 2 highly homologous genes, SMN1 and SMN2 (Bio-Rad).
Abbreviations CP: Cerebral palsy SCP: Spastic cerebral palsy DCP: Dyskinetic cerebral palsy RSNs: Resting-state networks FNC: Functional network connectivity GMFCS: Gross Motor Function Classification System ADL: Everyday activities of daily living SMN1: Sensorimotor network 1, included the paracentral lobule, the supplementary motor area, and preand postcentral gyrus SMN2: Sensorimotor network 2, focused at the lateral primary somatosensory cortex, including pre- and postcentral gyrus areas primVN: The primary visual network extraVN: The extrastriate visual network.
Deletion and small intragenic mutations are detected in SMN1 gene.
The SMN1 gene located on SSC16 nearby the significant SNP affecting CWT in Berkshire is known to cause skeletal muscle wasting in pigs when it is deleted or mutated (Jeffrey and Randall, 2011) thereby has influence in pig CWT.
Deletion in survival motor neuron (SMN1) gene is identified in 92% of all classical SMA patients.
SMA is caused by a genetic defect in the SMN1 gene which encodes for SMN, a protein necessary for survival of motor neurons.
Dora started researching the condition, which is caused by a genetic defect in the SMN1 gene, which is vital for the survival of motor neurones and muscle life.
The mutated SMN1 gene responsible for SMA is carried by up to 20 million potential parents in the United States and European Union, most of them unaware that they are carriers.