International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064

Downloads: 110 | Views: 185

Case Studies | Pediatrics | India | Volume 9 Issue 2, February 2020 | Rating: 6.1 / 10

A Case Report on Spinal Muscular Atrophy

Dr. Rehana Begum [2]

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.

Keywords: Spinal muscular atrophy, SMN gene, autosomal recessive mendelian inheritence, respiratory support, genetic analysis - chorionic villous sampling

Edition: Volume 9 Issue 2, February 2020,

Pages: 579 - 580

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