open access

Vol 52, No 2 (2018)
Original research articles
Submitted: 2017-04-12
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Low-symptomatic skeletal muscle disease in patients with a cardiac disease – Diagnostic approach in skeletal muscle laminopathies

Agnieszka Madej-Pilarczyk, Michał Marchel, Karolina Ochman, Joanna Cegielska, Roman Steckiewicz
DOI: 10.1016/j.pjnns.2017.09.006
·
Neurol Neurochir Pol 2018;52(2):174-180.

open access

Vol 52, No 2 (2018)
Original research articles
Submitted: 2017-04-12

Abstract

Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling.

Abstract

Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling.

Get Citation

Keywords

LMNA gene, Lamin A/C, Laminopathy, Emery-Dreifuss muscular dystrophy, Cardiac involvement

About this article
Title

Low-symptomatic skeletal muscle disease in patients with a cardiac disease – Diagnostic approach in skeletal muscle laminopathies

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 52, No 2 (2018)

Pages

174-180

DOI

10.1016/j.pjnns.2017.09.006

Bibliographic record

Neurol Neurochir Pol 2018;52(2):174-180.

Keywords

LMNA gene
Lamin A/C
Laminopathy
Emery-Dreifuss muscular dystrophy
Cardiac involvement

Authors

Agnieszka Madej-Pilarczyk
Michał Marchel
Karolina Ochman
Joanna Cegielska
Roman Steckiewicz

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