SMARD (Spinal Muscular Atrophy with Respiratory Distress) is a rare genetic neuromuscular disorder. Usually striking in early infanthood, SMARD attacks breathing musculature, rendering a patient unable to breathe without assistance. It will also affect other muscle groups, and in most cases SMARD children cannot walk or even sit unsupported.
SMARD is a progressive disease, meaning that neural degeneration continues.
SMARD is caused by mutations or deletions of the IGHMBP2 gene. It is an autosomal recessive disorder, and in theory both parents are carriers of mutations or deletions of IGHMBP2. Each pregnancy, if both parents are carriers, has a 25% risk of having an affected child.
There is neither treatment nor cure for SMARD, but there is hope. Stem cell research has proved extremely promising in patients with spinal cord injuries and SMA, a disease of which SMARD is a subset. In addition, research on SMARD is taking place in the United States and Europe.