The Natural History of Congenital Myotonic Dystrophy: Mortality and Long Term Clinical Aspects

Overview

Journal Arch Dis Child

Specialty Pediatrics

Date 1993 Feb 1

PMID 8481038

Citations 31

Authors

W Reardon

R Newcombe

I Fenton

J Sibert

P S Harper

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Mortality Trends and Causes of Death in Myotonic Dystrophy Type 1 Patients From the UK Clinical Practice Research Datalink.

Alsaggaf R, Pfeiffer R, Pearce E, Greene M, Lochmuller H, Gadalla S Muscle Nerve. 2024; 71(2):229-236.

PMID: 39679826 PMC: 11708454. DOI: 10.1002/mus.28308.

Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.

Shear M, Penon-Portmann M, Shieh J, Glenn O, Thiet M, Chetty S Neurol Genet. 2024; 10(6):e200171.

PMID: 39444647 PMC: 11498903. DOI: 10.1212/NXG.0000000000200171.

Survival in myotonic dystrophy type 1: a long time follow up-study with special reference to gastrointestinal symptoms.

Ronnblom A, Ekbom A Ups J Med Sci. 2024; 129.

PMID: 39376588 PMC: 11457906. DOI: 10.48101/ujms.v129.10663.

Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review.

Wu Y, Wei Q, Lin J, Shang H, Ou R Front Cell Neurosci. 2024; 18:1369332.

PMID: 38638300 PMC: 11024338. DOI: 10.3389/fncel.2024.1369332.

Myotonic dystrophy type 1 presenting with dyspnea: A case report.

Jia Y, Dong C, Xue J, Duan X, Xu M, Su X World J Clin Cases. 2022; 10(20):7060-7067.

PMID: 36051128 PMC: 9297391. DOI: 10.12998/wjcc.v10.i20.7060.

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