Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (23)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Emery, A E H
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Emery, A E H
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

British Medical Bulletin 45:772-787 (1989)
© 1989 The British Council

research-article

Emery-Dreifuss muscular dystrophy and other related disorders

A E H Emery

Medical School, University of Edinburgh Edinburgh, UK

Abstract

There are some 30 or so different forms of muscular dystrophy which are conveniently classified according to the mode of inheritance. Emery-Dreifuss X-linked muscular dystrophy is characterized by the triad of: (1) early contractures of the elbows, Achilles tendons and post-cervical muscles; (2) slowly progressive muscle wasting and weakness with a humero-peroneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart-block. The insertion of a cardiac pace-maker can be life saving and therefore the recognition of the condition is essential. The responsible gene has been localized to Xq28.

The autosomal recessive dystrophies are classified into congenital forms (the Fukuyama type is particularly common in Japan); a childhood form (similar to Duchenne) Which occurs frequently in certain inbred communities; and adult onset limb girdle dystrophy.

The autosomal dominant dystrophies are classified on the distribution of predominant muscle weakness into facioscapulohumeral, scapuloperoneal (with or without early contractures and cardiomyopathy), proximal, distal and ocular forms.

The basic biochemical defects and the localizations of the responsible genes are as yet unknown in any of the autosomal recessive or autosomal dominant dystrophies.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Arch NeurolHome page
S. Ura, Y. K. Hayashi, K. Goto, M. N. Astejada, T. Murakami, M. Nagato, S. Ohta, Y. Daimon, H. Takekawa, K. Hirata, et al.
Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations
Arch Neurol, July 1, 2007; 64(7): 1038 - 1041.
[Abstract] [Full Text] [PDF]

Home page
 StrokeHome page
G. Boriani, M. Gallina, L. Merlini, G. Bonne, D. Toniolo, S. Amati, M. Biffi, C. Martignani, L. Frabetti, M. Bonvicini, et al.
Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy: A Long-Term Longitudinal Study
Stroke, April 1, 2003; 34(4): 901 - 908.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Muchir, G. Bonne, A. J. van der Kooi, M. van Meegen, F. Baas, P. A. Bolhuis, M. de Visser, and K. Schwartz
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
Hum. Mol. Genet., May 22, 2000; 9(9): 1453 - 1459.
[Abstract] [Full Text] [PDF]

Home page
 HeartHome page
A E Buckley, J Dean, and I R Mahy
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series
Heart, July 1, 1999; 82(1): 105 - 108.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.