The author Kathleen Adams is the President.
Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease
Version of Record online: 10 APR 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 120A, Issue 4, pages 474–482, 1 August 2003
How to Cite
Boles, R. G., Adams, K., Ito, M. and Li, B.U.K. (2003), Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease. Am. J. Med. Genet., 120A: 474–482. doi: 10.1002/ajmg.a.20126
- Issue online: 16 JUL 2003
- Version of Record online: 10 APR 2003
- Manuscript Accepted: 16 JAN 2003
- Manuscript Received: 28 MAR 2002
- The Childrens Hospital Los Angeles Research Institute (Research Career Development Award)
- The National Institute of Health. Grant Number: 1R21NS40462
- The Cyclic Vomiting Syndrome Association USA/Canada (all to R.G.B)
- clinical questionnaire
Cyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a predominately childhood condition associated with migraine and dysautonomic features. Disease-associated mitochondrial DNA (mtDNA) sequence variants are suggested by a strong maternal bias in the inheritance of migraine, and the recent findings of mtDNA variants in a few children with CVS and additional neuromuscular disease manifestations (“CVS+”). A clinical interview using a questionnaire was administered (generally) to one parent of 62 children with CVS+. Non-senile disease manifestations, including migraine, myopathy, seizures, and dysautonomia-like symptoms, were far more common in matrilineal versus non-matrilineal relatives, including being present in 75% of the mothers versus in only 11% of the fathers (P < 0.001). Overall, maternal inheritance is suggested in 86% of the families (in 65% strongly so). Disease manifestations in subjects and their affected matrilineal relatives are predominately intermittent and consistent with dysautonomia, including increased vital sign fluctuations. Body fluid metabolites and muscle biopsy findings are consistent with mitochondrial dysfunction in most cases tested. We conclude that mtDNA sequence variants are at least risk factors in the development of disease in most children at this “severe” end of the CVS spectrum, likely involving a maternally inherited propensity towards dysautonomia. © 2003 Wiley-Liss, Inc.