Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1

Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare motor neuron disease that can result in dysautonomia but is usually only mildly symptomatic. We report a young girl with SMARD1 who had a catastrophic autonomic crisis with resultant permanent brain damage during an interhospital transfer. Although she was only mildly symptomatic prior to the transfer, in retrospect, her baseline autonomic function analysis had sympathetic hyperactivity without a typical circadian rhythm, indicating the presence of severe underlying dysautonomia. Because this underlying dysautonomia seemed markedly aggravated by the psychological stress, careful autonomic evaluation and management are warranted in patients with SMARD1.