Catastrophic autonomic crisis with cardiovascular collapse in spinal muscular atrophy with respiratory distress type 1

Toshihiro Nomura, Toshiki Takenouchi, Hiroyuki Fukushima, Sachiko Shimozato, Kenjiro Kosaki, Takao Takahashi

Research output: Contribution to journalArticle

4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)949-951
Number of pages3
JournalJournal of Child Neurology
Issue number7
Publication statusPublished - 2013



  • autonomic crisis
  • circadian rhythm
  • heart rate variability
  • spinal muscular atrophy with respiratory distress type 1
  • sympathetic

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this