The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects

Although the genetic basis of the congenital form of myotonic dystrophy has recently been clarified, data as to outcome in terms of life expectancy and morbidity are scanty. Life table data based on a cohort of 115 patients with a confirmed diagnosis of congenital myotonic dystrophy are presented. T...

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Bibliographic Details
Published in:Archives of disease in childhood 1993-02, Vol.68 (2), p.177-181
Main Authors: Reardon, W, Newcombe, R, Fenton, I, Sibert, J, Harper, P S
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Cause of Death
Child
Child Development
Child, Preschool
Cohort Studies
Delivery, Obstetric
Diseases of striated muscles. Neuromuscular diseases
Female
Gestational Age
Humans
Infant
Life Expectancy
Male
Medical sciences
Middle Aged
Motor Skills
Myotonia Congenita - genetics
Myotonia Congenita - mortality
Myotonic Dystrophy - congenital
Myotonic Dystrophy - genetics
Myotonic Dystrophy - mortality
Neurology
Wales - epidemiology
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Summary:Although the genetic basis of the congenital form of myotonic dystrophy has recently been clarified, data as to outcome in terms of life expectancy and morbidity are scanty. Life table data based on a cohort of 115 patients with a confirmed diagnosis of congenital myotonic dystrophy are presented. The data suggest a 25% chance of death before 18 months of age and a 50% chance of survival into the mid-30s. The profile of disease and complications among survivors is also charted.
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.68.2.177