Researchers identify genetic mutation causing rare form of
spinal muscular atrophy Scientists have confirmed that mutations
of a gene are responsible for some cases of a rare, inherited
disease that causes progressive muscle degeneration and
weakness: spinal muscular atrophy with lower extremity
predominance, also known as SMA-LED. "Typical spinal muscular
atrophies begin in infancy or early childhood and are fatal,
involving all motor neurons, but SMA-LED predominantly affects
nerve cells controlling muscles of the legs. It is not fatal and
the prognosis is good, although patients usually are moderately
disabled and require assistive devices such as bracing and
wheelchairs throughout their lives," said Robert H. Baloh, MD,
PhD, director of Cedars-Sinai Medical Center's Neuromuscular
Division and senior author of a Neurology article describing the
new findings on DYNC1H1. It is a molecule inside cells that acts
as a motor to transport cellular components. Using cells
cultured from patients, Baloh's group show