A Case Report on Spinal Muscular Atrophy

Dr. Rehana Begum

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