Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Agnieszka Madej-Pilarczyk; Andrzej Kochański

doi:10.5114/fn.2016.58910

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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1/2016
vol. 54

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abstract:

Review paper

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Agnieszka Madej-Pilarczyk

,

Andrzej Kochański

Folia Neuropathol 2016; 54 (1): 1-8

DOI: https://doi.org/10.5114/fn.2016.58910

Online publish date: 2016/03/31

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Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects.

keywords:

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Agnieszka Madej-Pilarczyk , Andrzej Kochański

Emery-Dreifuss muscular dystrophy, emerin, lamin A/C, laminopathy, LMNA gene

Agnieszka Madej-Pilarczyk

,

Andrzej Kochański