Spinal Muscular Atrophy: Diagnosis and Treatment
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Spinal muscular Atrophy (SMA) is a group of genetic diseases that cause muscle weakness and wasting (atrophy) due to the loss of specialized nerve cells called motor neurons. These motor neurons, located in the spinal cord and brainstem, are crucial for controlling voluntary muscle movements like walking, breathing, and swallowing. SMA is primarily caused by mutations in the SMN1 gene, which lead to a deficiency in the SMN protein, essential for motor neuron survival and function. Key aspects of
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