SMARD1: SMA with Respiratory Distress
SMA with Respiratory Distress (SMARD1) is a neuromuscular disease that causes muscle weakness and is an autosomal recessive condition. The genetic basis is unrelated to the 5q-linked SMN-related disease, and is due to mutations in a separate gene called, IGHMBP2. The most common clinical symptoms include early diaphragm paralysis and subsequent respiratory failure, as well as distal lower muscle weakness. These clinical manifestations help differentiate the disease from 5q-linked SMA.
More information on SMARD1 is forthcoming. Please check back regularly for updates.