dSMA-V

AcronymDefinition
dSMA-VDistal Spinal Muscular Atrophy Type V (inherited neuropathy)
Copyright 1988-2018 AcronymFinder.com, All rights reserved.
References in periodicals archive ?
Discovered in 2003, this is the first example of an aminoacyl tRNA synthetase being implicated in any inherited human disorder, and so far 11 pathogenic missense GARS variants have been linked to not only dSMA-V but also Charcot-Marie-Tooth disease type 2D (CMT2D) [2].
Abbreviations BSCL2: Berardinelli-Seip congenital lipodystrophy CMT2D: Charcot-Marie-Tooth 2D DCTN1: Dynactin subunit 1 dHMN: Distal hereditary motor neuropathies dSMA-V: Distal spinal muscular atrophy type V dSMA-Va: Distal spinal muscular atrophy type Va EMG: Electromyography ETC: Mitochondrial respiratory chain enzyme analysis GARS: Glycyl tRNA synthetase IGHMBP2: Immunoglobulin [mu]-binding protein-2 L: Leucine R: Arginine SETX: Senataxin sHSP: Small heat shock proteins SMA: Spinal muscular atrophy RSV: Respiratory syncytial virus VUS: Variant of unknown significance WES: Whole exome sequencing.
Patient #1 Patient #2 Phenotype dSMA-V dSMA-V GARS mutation p.Leu272Arg variant p.Leu272Arg variant Age, current 2 years old 4 years old Age of onset 10 months 9 months Axial and truncal + + (proximal) weakness Hands/feet extremities + + (distal) weakness Hypotonia + + Hyperlaxity + + Hyporeflexia + + Respiratory failure + -- Cardiomyopathy -- -- Patient #3 Mother Phenotype dSMA-V -- GARS mutation p.Leu272Arg variant p.Leu272Arg variant Age, current 7 months old 36 years old Age of onset 7 months old -- Axial and truncal + -- (proximal) weakness Hands/feet extremities + -- (distal) weakness Hypotonia + -- Hyperlaxity + -- Hyporeflexia + -- Respiratory failure + -- Cardiomyopathy -- -- dSMA-V: distal spinal muscular atrophy type V; Leu: leucine; Arg: arginine; + present;--absent.