Spinal Muscular Atrophy with Respiratory Distress (SMARD1)
What is SMARD1?
Spinal muscular atrophy with respiratory distress type 1
(SMARD1), also known as distal spinal muscular atrophy Tpe
1 (DSMA1) or distal hereditary motor neuropathy
Type 6 (dHMN6 or HMN6) is an inherited condition that
causes muscle weakness and respiratory failure typically beginning
in infancy. It is caused by a genetic defect in the IGHMBP2 gene
not by a deficiency of SMN protein which is the cause of spinal
muscular atrophy (SMA). The subsequent loss of the motor neurons in
both conditions is what causes the similarity in presentations.
SMARD1 most closely resembles SMA Type 1 the more severe type of
SMA. The main difference is the early onset respiratory
difficulties babies with SMARD1 experience along with the muscle
weakness. For more information about SMARD1 click
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This page was reviewed 19 Feb 2016