Also found in: Medical.
SPSMAScapuloperoneal Spinal Muscular Atrophy
SPSMASteve Pearson School of Martial Arts (UK)
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SPSMA is an autosomal dominant condition caused by mutations in the transient receptor potential vanilloid 4 (TRPV4) channel gene.
Progressive and wide variability Mitochondrial Infancy SMA with infantile DGUOK depletion onset liver syndrome 3 dysfunction, (MTDP3) nystagmus, cerebral atrophy, and early death SMA plus with distinctive patterns of weakness Spinal muscular Congenital Nonprogressive, DYNC1H1 atrophy, lower to adult proximal > distal leg extremity only weakness MRI predominant 1 lower limb--sparing of (SMALED1) thigh adductors and semitendinosus Spinal muscular Congenital Slow progression, BICD2 atrophy, lower to adult proximal > distal leg extremity > arms weakness with predominant 2 some contractures (SMALED2) Scapuloperoneal Early adult Progressive weakness TRPV4 spinal muscular of face and pectoral atrophy (SPSMA) muscles with laryngeal palsy.