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Spinal Muscular Atrophy Overview

Spinal Muscular Atrophy
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Category: Musculoskeletal (Associated with Bones and Muscles)

Gene: LIX1

Variant Detected: 140 bp deletion

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: The spinal muscular atrophies (SMAs) are a genetically heterogeneous group of disorders that vary in clinical severity, from lethal in infancy to onset of mild weakness in adulthood, but all are characterized by neurogenic muscle atrophy due to degeneration of lower motor neurons of the spinal cord. juvenile-onset skeletal muscle atrophy and weakness with onset at ~12 wk of age due to lower motor neuron loss (He et al. 2005). The affected cats exhibit progressive instability with gait and postural abnormalities attributable to symmetric weakness and atrophy of proximal muscles. Skeletal muscle atrophy is evident histologically by 3 mo and becomes palpable by 5 months of age.

Research Citation(s): Genome Res. 2006 Sep; 16(9): 1084–1090.

Associated Breed(s): Maine Coon,