« Back to Glossary Index
Spinal Muscular Atrophy is a genetic neuromuscular disorder characterized by the degeneration of motor neurons in the spinal cord and brainstem, leading to progressive muscle weakness and atrophy. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, impacting the production of a protein essential for motor neuron function.
SMA manifests with varying degrees of severity, classified into different types based on age of onset and symptom severity. Common spinal atrophy symptoms include muscle weakness, poor muscle tone, difficulty in movement, impaired mobility, and respiratory issues. Treatment options may include supportive care, physical therapy, and emerging therapies aimed at addressing the underlying genetic cause.
