FAQs about SMA-LED
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is a rare type of spinal muscular atrophy, with symptoms usually starting in infancy, and marked by weakness in the lower limbs.
Yes. Due to the difficulty in diagnosing spinal muscular atrophy with lower extremity predominance (SMA-LED), some people may receive a diagnosis as late as adulthood. In fact, about one-quarter of those with SMA-LED may not develop symptoms, such as muscle weakness, until they are adults.
Children with spinal muscular atrophy with lower extremity predominance (SMA-LED) may have delayed motor development, and some may never walk. Others may have a waddling or unsteady gait, and some may require specialized equipment.
There is no cure for SMA-LED at this point in time. Available treatments can help ease the disease symptoms and contribute to a better quality of life.
At this point, there is no gene therapy for SMA-LED, which is caused by mutations in the DYNC1H1 or BICD2 genes.
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