Significance of Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder characterized by the progressive degeneration of spinal motor neurons, leading to muscle weakness and atrophy. It primarily affects skeletal muscles used for movement and is caused by mutations in the SMN1 gene, with variations in the SMN2 gene influencing severity. SMA is classified as an autosomal recessive disorder, often resulting in significant dependency and a reduced lifespan due to its impact on voluntary muscle control.

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The concept of Spinal Muscular Atrophy in scientific sources