Emery-Dreifuss Muscular Dystrophy

Overview

Journal Muscle Nerve

Date 2019 Dec 17

PMID 31840275

Citations 61

Authors

Scott A Heller

Renata Shih

Raghav Kalra

Peter B Kang

Affiliations

Soon will be listed here.

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life-threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these manifestations vary by subtype and individual. Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN, encoding emerin, lamin A/C, nesprin-1, nesprin-2, FHL1, LUMA, SUN1, SUN2, and titin, respectively. The Online Mendelian Inheritance in Man database recognizes subtypes 1 through 7, which captures most but not all of the associated genes. Genetic diagnosis is essential whenever available, but traditional diagnostic tools can help steer the evaluation toward EDMD and assist with interpretation of equivocal genetic test results. Management is primarily supportive, but it is important to monitor patients closely, especially for potential cardiac complications. There is a high potential for progress in the treatment of EDMD in the coming years.

Citing Articles

Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis.

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: A Model Organism in Muscular Dystrophy Studies.

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Outcome measures in muscular dystrophy rehabilitation: an ICF content comparison approach to the most commonly used MD scales.

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Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

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Successful ablation of Purkinje-related ventricular ectopy leading to ventricular fibrillation in Emery-Dreifuss dilated cardiomyopathy.

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