Osmosis video - Spinal muscular atrophy

Spinal muscular atrophy or SMA is an autosomal recessive disorder where a deletion of the SMN1 gene causes alpha-motor neurons in the spinal cord to die, resulting in muscle weakness, atrophy, respiratory failure, and death in extreme cases. Treatment for SMA is supportive, like giving nutrition through a feeding tube as well as respiratory support to help with muscle stiffness and strengthen respiratory muscles.