Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1
نویسندگان
چکیده
With a 1:8000 incidence, myotonic dystrophy type 1 (DM1), also known as Steinert’s disease, is the most common neuromuscular disease in adults. This autosomal, dominant disorder is caused by the expansion of a (CTG) n triplet repeat in the 3′ untranslated region of the DMPK gene. The manifestations of the disease include muscle wasting and weakness, myotonia, multiple endocrine disorders, respiratory insufficiency, early-onset cataract, cognitive impairment, and cardiac disease, including conduction defects, ventricular dysfunction, supraventricular, and ventricular arrhythmias.
منابع مشابه
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry.
BACKGROUND In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. METHODS AND RESULTS We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the Myotonic Dy...
متن کاملGenotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
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Myotonic dystrophy (DM), the commonest dystrophy in adults, is an autosomal dominant disease characterized by a variety of multisystemic features. Two main genetically distinct forms of DM have been identified: type 1 (DM1), the classic form first described by Steinert, and type 2 (DM2), identified by Ricker. DM1 is caused by trinucleotide expansion of cytosine- -thymine-guanine (CTG) in the my...
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BACKGROUND Myotonic dystrophy, the most common form of adult dystrophy, has been shown to be caused by amplification of CTG triplet repeat in the 3' untranslated region of a protein kinase gene located on chromosome 19. Impaired glucose metabolism has been suggested as a possible explanation of brain and skeletal muscle involvement in this multisystem disease. We investigated whether myocardial...
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Myotonic dystrophy type 1 (DM1) is the commonest muscular dystrophy in adults, affecting multiple organs in addition to skeletal muscles. Cardiac conduction system abnormalities are well recognized as an important component of DM1 phenotype; however, primary structural myocardial abnormalities, which may predispose these patients to congestive heart failure, are not as well characterized. We re...
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تاریخ انتشار 2017