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A Case Report on Spinal Muscular Atrophy
Journal: International Journal of Science and Research (IJSR) (Vol.9, No. 2)Publication Date: 2020-02-05
Authors : Rehana Begum;
Page : 579-580
Keywords : Spinal muscular atrophy; SMN gene; autosomal recessive mendelian inheritence;
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Abstract
case report on spinal muscular atrophy - Spinal Muscular Atrophy is characterised by degeneration of lower motor neurons in spinal cord , causing progressive paralysis of limbs and trunk, followed by muscle atrophy sparing extraocular muscles . SMA is one of most frequent Autosomal Recessive diseases, with a carrier frequency of 1 in 50 and is the most common genetic cause of childhood mortality.
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Last modified: 2021-06-27 15:43:04