scholarly journals 12‐Month Progression of Motor and Functional Outcomes in Congenital Myotonic Dystrophy

2020 ◽  
Author(s):  
Kellen H Quigg ◽  
Kiera N Berggren ◽  
Melissa McIntyre ◽  
Kameron Bates ◽  
Francesca Salmin ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Functional Outcomes ◽  
Congenital Myotonic Dystrophy

scholarly journals Disease burden and functional outcomes in congenital myotonic dystrophy

Neurology ◽  
2016 ◽  
Vol 87 (2) ◽  
pp. 160-167 ◽  
Author(s):  
Nicholas E. Johnson ◽  
Russell Butterfield ◽  
Kiera Berggren ◽  
Man Hung ◽  
Wei Chen ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Functional Outcomes ◽  
Disease Burden ◽  
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.

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.

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

scholarly journals Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy

2018 ◽  
Vol 58 (3) ◽  
pp. 413-417 ◽  
Author(s):  
Kiera N. Berggren ◽  
Man Hung ◽  
Melissa M. Dixon ◽  
Jerry Bounsanga ◽  
Becky Crockett ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Congenital Myotonic Dystrophy

scholarly journals Impact of prematurity and the CTG repeat length on outcomes in congenital myotonic dystrophy

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Yu Saito ◽  
Kenta Matsumura ◽  
Misao Kageyama ◽  
Yuichi Kato ◽  
Eiji Ohta ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Length ◽  
Congenital Myotonic Dystrophy ◽  
Ctg Repeat
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