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Spinal Muscular Atrophy (SMA)


Spinal muscular atrophy (SMA) is a genetic disorder characterized by the progressive loss of motor neurons in the spinal cord, leading to muscle weakness and atrophy. This condition is caused by a mutation in the SMN1 gene, which is responsible for producing a protein essential for motor neuron function. The severity and onset of SMA can vary, with four main types identified based on age of onset and clinical features.