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La mère et l'enfant atteints de dystrophie myotonique de Steinert

Published online by Cambridge University Press:  18 September 2015

G. Paris ,
R. Laframboise  and
J.-P. Bouchard
G. Paris*
Affiliation:
Département de gynéco-obstétrique, Centre hospitalier de l'Université Laval, Sainte- Foy
R. Laframboise
Affiliation:
Hôpital de l'Enfant-Jésus,, Université Laval,, Québec et Service de médecine génétique, Centre hospitalier de l'Université Laval, Sainte- Foy
J.-P. Bouchard
Affiliation:
Département des sciences neurologiques, Centre hospitalier de l'Université Laval, Sainte- Foy
*
Département de gynéco-obstétrique, Hôpital de l'Enfant-Jésus, 1401, 18iéme Rue, Qué, Canada GIJ 1Z4
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Abstract:

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The Mother and Infant with Myotonic Dystrophy Pregnancy and delivery present a number of risks for the mother suffering from myotonic dystrophy, and for her infant. Most of the time, she does not even know that she is affected by the disease and a carrier of the gene. We review the complications of pregnancy and delivery in myotonic patients, and propose a simple management with specific items for each gestational period. The child of a dystrophic mother has a 50% risk of inheriting the abnormal gene. He may also exhibit a developmental and malformation syndrome called "congenital myotonic dystrophy". From the beginning, he may show respiratory distress, thereafter inability to swallow and severely hypotonia. Later, he may demonstrate mental retardation. Some of the most obvious signs found in neonates in our practice are illustrated. We also add a few tests to the list of those already recommended for these children.

Type
SPECIAL SUPPLEMENT Dystrophie myotonique au Québec
Information
Canadian Journal of Neurological Sciences , Volume 16 , Issue 1 , February 1989 , pp. 104 - 108
Copyright
Copyright © Canadian Neurological Sciences Federation 1989

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