spinal muscular atrophy type 2
Spinal muscular atrophy type 2 (SMA type 2) 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 typically manifests in early childhood, leading to muscle weakness and difficulties with movement, such as sitting or standing without support.
Children with SMA type 2 may experience progressive muscle atrophy, impacting their ability to perform daily activities. While life expectancy has improved with advancements in treatment, individuals may require supportive therapies, including physical therapy and assistive devices, to enhance their quality of life.