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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

References

RéFéRENCES

1.Mass, O. Observations on dystrophia myotonia. Brain 1937; 60: 498–524.CrossRefGoogle Scholar
2.Thomasen, E. Myotonia. Universitetsforlaget Aarhus, Copenhagen, 1948.Google Scholar
3.Sciarra, JJ, Steer, CM. Uterine contractions during labor in myotonic muscular dystrophy. Am J Obst Gynecol 1961; 82: 612–615.CrossRefGoogle ScholarPubMed
4.Shore, RN, MacLachlan, TB. Pregnancy with myotonic dystrophy. Course, complications and management. Obstet Gynecol 1971; 38: 448–454.Google ScholarPubMed
5.Harper, PS. Endocrine abnormalities in myotonic dystrophy. In: Myotonic Dystrophy. Philadelphia: WB Saunders Co, 1979.Google Scholar
6.Webb, D. Myotonia dystrophica: obstetric complications. Am J Obst Gynecol 1978; 132: 265–270.CrossRefGoogle ScholarPubMed
7.Fossen, D. Obstetric complications as the first sign of myotonic dys-trophy. Acta Obstet Gynecol Scand 1986; 65: 667–668.CrossRefGoogle Scholar
8.Shore, RN. Myotonic dystrophy: hazards of pregnancy and infancy. Dev Med Child Neurol 1975; 17: 356–361.CrossRefGoogle ScholarPubMed
9.Dunn, LJ, Dierker, LJ. Recurrent hydramnios in association with myotonia dystrophica. Obstet Gynecol 1973; 42: 104–106.Google ScholarPubMed
10.Broekuizen, F. Neonatal myotonic dystrophy as a cause of hydram- nios and neonatal death. J Reprod Med 1983; 28: 595–599.Google Scholar
11.Monnier, JC. Maladie de Steinert et grossesse. J Gynécol Obstet Biol Reprod 1984; 13: 541–548.Google Scholar
12.Vanier, TM. Dystrophia myotonica in childhood. Brit Med J 1960; 2: 1284.CrossRefGoogle ScholarPubMed
13.Bell, DM, Smith, DW. Myotonic dystrophy in the neonate. J Pediatr 1972; 81: 83–86.CrossRefGoogle ScholarPubMed
14.Harper, PS. Congenital myotonic dystrophy in Britain: I. Clinical aspects. Arch Dis Child 1975; 50: 505–513.CrossRefGoogle ScholarPubMed
15.Tome, FMS, Fardeau, M. La dystrophie myotonique de Steinert: Comparaison des aspects cliniques et morphologiques rencon-trés chez l’adulte et chez l’enfant. G M de France 1974; 81: 3247–3250.Google Scholar
16.Mundler, F. Formes néonatale et infantile preacoce de la dystrophie myotonique (Maladie de Steinert). Pédiatrie 1970; 25: 865–872.Google Scholar
17.L’hirondel, J, Guihard, J, Velot-Lerou, A, Orange, C. La maladie de Steinert néonatale. A propos d’une observation. Sem Hôp. Paris 1970; 46: 1867–1874.Google Scholar
18.Swift, TR, Ignacio, OJ, Dyken, PR. Neonatal dystrophia myotonica. Am J Dis Child 1975; 129: 734–737.CrossRefGoogle ScholarPubMed
19.Sarnat, HB, O’Connor, T, Byrme, PA. Clinical effect of myotonic dystrophy on pregnancy and the neonate. Arch Neurol 1976; 33: 459–465.CrossRefGoogle ScholarPubMed
20.Billeaud, C, Baronnet, R, Cadier, L, et al. Détresse respiratoire chez le nouveau-né atteint de maladie de Steinert. Méd Infant 1982; 1: 35–49.Google Scholar
21.Fried, K, Pajewski, M, Mundel, G, et al. Thin ribs in neonatal myotonic dystrophy. Clin Genet 1975; 7: 417–420.CrossRefGoogle ScholarPubMed
22.Chassevent, J, Sauvegrain, J, Besson-Leaud, M, Kalifa, G. Myotonic dystrophy (Steinert’s disease) in the neonate. Ped Radiol 1978; 127: 747–749.CrossRefGoogle ScholarPubMed
23.Chudley, AE,Barmada, MA. Diaphragmatic elevation in neonatal myotonic dystrophy. Am J Dis Child 1979; 133: 1182–1185.Google ScholarPubMed
24.Osborne, JP, Murphy, EG, Hill, A. Thin ribs on chest X-ray: a usefull sign in the differential diagnosis of the floppy newborn. Dev Med Child Neurol 1983; 25: 343–345.CrossRefGoogle Scholar
25.Laframboise, R, Gagné, R, Carrier, C, et al. Fracture du fémur chez deux cas de dystrophie myotonique de Steinert. M/S Suppl 9 1987; 3: 25.Google Scholar