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Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the motor neurons responsible for muscle movement. It leads to progressive muscle weakness and atrophy, with symptoms ranging from difficulty sitting or walking to trouble breathing and swallowing. The severity depends on the type, which can manifest from infancy to adulthood. SMA is caused by a mutation in the SMN1 gene, and advancements in treatments, such as gene therapy and targeted drugs, have significantly improved outcomes. Early diagnosis through genetic testing can ensure timely intervention to manage symptoms and improve quality of life.

Resources

Cure SMA: https://www.curesma.org
NIH Genetics Home Reference: https://ghr.nlm.nih.gov 

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