Abstract
Muscle Weakness and Atrophy, Hypotonia, Progressive Degeneration, Motor Function Impairment are hallmarks of Spinal Muscular Atrophy, a neuromuscular genetically inherited disorder that causes muscle weakness and wasting usually diagnosed in infancy or early childhood and rarely identified in adults. The genetic components of the disease are inherited, meaning that the afflicted individual receives the gene from a parent with the same genetic makeup. It is inherited in an autosomal-recessive manner. The survival motor neuron gene 1 (SMN1) is the gene responsible for the most prevalent kind of SMA. A patient with Spinal Muscular Atrophy is described, associated their clinical with and genetic features.
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