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A rare case of spinal muscular atrophy

Author:

Dr. Krishnappa, Dr. Kusuma N. and Vaigundan

Subject Area:

Health Sciences

Abstract:

Spinal Muscular Atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord leading to progressive symmetrical weakness and atrophy of the proximal muscles. It is classified into three groups according to the age of onset and progression of weakness. SMA I, II, III & IV. Type I being most serious form & type III being the mildest form & Type IV being adult onset disease. Here we present you a case who presented with similar history and examination for which genome analysis was done and confirmed the diagnosis of SMA.

PDF file:

27413.pdf

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