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

1989 ◽  
Vol 16 (1) ◽  
pp. 104-108 ◽  
Author(s):  
G. Paris ◽  
R. Laframboise ◽  
J.-P. Bouchard
Keyword(s):  
Mental Retardation ◽  
Respiratory Distress ◽  
Myotonic Dystrophy ◽  
Malformation Syndrome ◽  
Gestational Period ◽  
Congenital Myotonic Dystrophy ◽  
Pregnancy And Delivery

ABSTRACT: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.

Respiratory outcomes in children with congenital myotonic dystrophy

2021 ◽  
pp. 1-5
Author(s):  
Jaclyn C. Omura ◽  
Maida Chen ◽  
Miriam Haviland ◽  
Susan Apkon
Keyword(s):  
Respiratory Distress ◽  
Myotonic Dystrophy ◽  
Invasive Mechanical Ventilation ◽  
Retrospective Chart Review ◽  
Mortality Rates ◽  
Respiratory Support ◽  
Non Invasive ◽  
Congenital Myotonic Dystrophy ◽  
Respiratory Outcomes

PURPOSE: Congenital myotonic dystrophy (CDM) results in hypotonia and acute respiratory distress at birth. Previous studies show that prolonged periods of intubation (>4 weeks) correlate with increased mortality rates. The objective is to describe the use and duration of respiratory support in newborns with CDM and how these relate to mortality. METHODS: A retrospective chart review was performed at a tertiary pediatric hospital among children with confirmed diagnosis of CDM. The main outcome measures were: mortality, duration of invasive mechanical ventilation (IMV) and non-invasive partial pressure ventilation (NIPPV), along with long-term use of respiratory support and equipment. RESULTS: A total of 18 subjects met inclusion criteria, 83%.f which had documented respiratory distress at birth, 39%.equired NIPPV, and 50%.equired intubation in the neonatal period. The earliest NIPPV was initiated at day one of life, and the latest extubation to NIPPV was at 17 days of life. CONCLUSION: This cohort required IMV for shorter periods with earlier transitions to NIPPV which suggests a possible change in practice and earlier transition to NIPPV recently. Further data are needed to determine if there is a possible correlation between the need for NIPPV/IMV and mortality rates.

Heterotopic neurons in congenital myotonic dystrophy with mental retardation

1997 ◽  
Vol 17 (3) ◽  
pp. 243-247 ◽  
Author(s):  
Chigusa Watanabe ◽  
Sadao Katayama ◽  
Koichi Noda ◽  
Mayumi Kaneko ◽  
Kouki Inai ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Myotonic Dystrophy ◽  
Congenital Myotonic Dystrophy

scholarly journals Four-repeat tau dominant pathology in a congenital myotonic dystrophy type 1 patient with mental retardation

2018 ◽  
Vol 28 (3) ◽  
pp. 431-433 ◽  
Author(s):  
Yuri Mizuno ◽  
Norihisa Maeda ◽  
Hideomi Hamasaki ◽  
Hajime Arahata ◽  
Naokazu Sasagasako ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Congenital Myotonic Dystrophy

SEVERE CONGENITAL MYOTONIC DYSTROPHY TYPE 1

2018 ◽  
Vol 97 (1) ◽  
pp. 78-81
Author(s):  
E.A. Mamaeva ◽  
◽  
L.A. Fedorova ◽  
S.E. Voronovich ◽  
V.D. Nazarov ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Congenital Myotonic Dystrophy

CONGENTITAL MYOTONIC DYSTROPHY

PEDIATRICS ◽  
1989 ◽  
Vol 84 (2) ◽  
pp. 361-361
Author(s):  
J. F. L.
Keyword(s):  
Myotonic Dystrophy ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Artificial Ventilation ◽  
Birth Asphyxia ◽  
Respiratory Complications ◽  
Respiratory Problems ◽  
Intrauterine Growth ◽  
Congenital Myotonic Dystrophy ◽  
Duration Of Ventilation

The clinical features of 14 neonates with congenital myotonic dystrophy were retrospectively reviewed. These babies represent all the new cases of congenital myotonic dystrophy seen in the department since 1982. Twelve babies were referred because of either difficulties in diagnosis or difficulties in the management of their respiratory problems. Of the 14 babies, 13 had birth asphyxia, 11 were premature, and four had intrauterine growth retardation. Ten babies required artificial ventilation from birth. Abnormalities on chest radiography included thin ribs (n = 9) and raised right hemidiaphragms (n = 5). Recurrent episodes of collapse and consolidation of the lungs secondary to poor swallowing occurred in all ventilated babies. All babies ventilated for longer than four weeks died of respiratory complications before the age of 15 months. One baby was successfully extubated after diaphragmatic plication, but he died a few months later. Duration of ventilation was the best guide to prognosis.

Occlusive hydrocephalus in congenital myotonic dystrophy

2001 ◽  
Vol 23 (2) ◽  
pp. 122-124 ◽  
Author(s):  
Werner Rettwitz-Volk ◽  
Mats Wikstroem ◽  
Olof Flodmark
Keyword(s):  
Myotonic Dystrophy ◽  
Congenital Myotonic Dystrophy ◽  
Occlusive Hydrocephalus
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