Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

R. Byring, H. Pihko, A. Tsujino, X. M. Shen, B. Gustafsson, P. Hackman, K. Ohno, A. G. Engel, B. Udd

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


The sudden infant death syndrome has multiple etiologies. Some congenital myasthenic syndromes can cause sudden infant death syndrome by apnea, but the frequency of this etiology is unknown. We report here a young patient with sudden respiratory crises culminating in apnea followed by recovery, against a background of no or variable myasthenic symptoms without dyspnea. One sib without myasthenic symptoms and one sib who only had mild ptosis died previously during febrile episodes. Studies reported by us elsewhere traced the proband's illness to mutations in choline acetyltransferase. Here, we describe in detail the morphologic investigations and electrophysiologic findings, which point to a presynaptic defect in acetylcholine resynthesis or vesicular filling, in the proband. Analysis of DNA from a sib who previously died of sudden infant death syndrome revealed the same choline acetyltransferase mutation. Thus, mutations in choline acetyltransferase may be a cause of sudden infant death syndrome as, theoretically, could other presynaptic myasthenic disorders.

Original languageEnglish (US)
Pages (from-to)548-553
Number of pages6
JournalNeuromuscular Disorders
Issue number6
StatePublished - 2002


  • Choline acetyl transferase
  • Congenital myasthenic syndrome
  • Episodic apnea
  • Sudden infant death

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)


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