About

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.

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2 responses to “About

  1. ashlynne hodges

    What are the signs of SMARD… How do u know what to look for???

  2. Hi Ashlynne! SMARD can vary from child to child, but typically it introduces with difficulty breathing. In our case, the first manifestation of that was my son’s sudden violent gagging and decrease in appetite, which went on for about a month before he finally could no longer breathe on his own. That day he was extremely lethargic, his heart was beating very fast and he was retracting–meaning I could see his ribs when he breathed, as he was trying to suck in air.

    Sometimes it can manifest first with hand and foot difficulty–the child may not open her hands like typical children do. In most cases I personally have seen, that comes later, though. Unfortunately, if the breathing problems are not caught in time, SMARD will be fatal, as the diaphragm loses the majority of its ability to move and the child can no longer breathe.

    The problem with SMARD is that so few doctors know of it that unless you have pretty much a world-class neurologist on your team, they’re not going to pick up on it. Are you concerned about a child who is manifesting difficulty breathing?

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