Spinal Muscular Atrophy type 1
Spinal Muscular Atrophy type 1 (SMA type 1) is a genetic disorder that affects the motor neurons in the spinal cord. It is caused by a deficiency of the SMN1 gene, which is essential for the survival of these neurons. This condition leads to muscle weakness and atrophy, primarily impacting infants and young children. Symptoms typically appear before six months of age, and affected individuals may have difficulty with movements such as sitting, crawling, or even breathing.
SMA type 1 is classified as the most severe form of Spinal Muscular Atrophy. Without intervention, it can significantly shorten life expectancy, but advancements in treatment, such as gene therapy and supportive care, have improved outcomes for many patients. Early diagnosis and intervention are crucial for enhancing quality of life and maximizing motor function.