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 here

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 This page was reviewed 19 Feb 2016