Spinal Muscular Atrophy w/ Respiratory Distress Type 1 - SMARD1

Stanford University is collecting samples of blood, muscle and other tissues from people with neuromuscular disorders for use in research

posted on January 7, 2015 - 12:06pm
Ever wondered how someone with a neuromuscular disorder in his or her family might contribute to research efforts in this field?

The investigational compound is designed to raise levels of the SMN protein, a lack of which is the underlying cause of spinal muscular atrophy (SMA)

posted on November 19, 2014 - 3:36pm
PTC Therapeutics, a South Plainfield, N.J., biopharmaceutical company, says it will soon open a trial to test the safety and tolerability of its investigational drug RG7800 in adults and children with spinal muscular atrophy (SMA). The announcement was made in a Nov. 19, 2014, press release.

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

Pediatrics report focuses on respiratory care for children with neuromuscular diseases

posted on June 2, 2009 - 9:00pm
The proceedings of a symposium titled "Pulmonary Management of Pediatric Patients with Neuromuscular Disorders" have been published as a supplement to the May 2009 issue of the journal Pediatrics. The symposium was held Feb. 20, 2008, at Scottish Rite Hospital in Dallas, and was sponsored by MDA, as well as Respironics and Hill-Rom Services. Topics, all of which pertain specifically to children...
posted on April 1, 2009 - 4:14pm
QUEST Vol. 16, No. 2
This report provides an overview of spinal muscular atrophy (SMA), a disease in which a loss of nerve cells in the spinal cord causes weakness or paralysis of variable severity.
posted on April 1, 2009 - 7:08am
QUEST Vol. 16, No. 2
The International Spinal Muscular Atrophy Patient Registry, founded in 1986 at Indiana University, brings together individuals and families affected by SMA, and researchers studying SMA. The Registry contains information from more than 1,600 families and 1,700 individuals with SMA around the world. In addition to recruiting participants for clinical trials and providing data for SMA research...
posted on April 1, 2009 - 7:08am
QUEST Vol. 16, No. 2

Uncertain future, unexpected rewards

posted on May 31, 2001 - 5:00pm
It's the kind of thing you think can never happen to you — until it does. Your baby is born with a life-threatening condition that fascinates but puzzles pediatric specialists, while it terrifies you and turns your family's life inside out. Often such surprises come without warning. There's no family history of any such disorder, and prenatal tests have revealed no serious problems. The first...