Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.
OBJECTIVE
The authors present the results of a 4-year follow-up of patients with Emery-Dreifuss dystrophy (EDMD) included in a project on laminopathies. The focus of the discussion is on the clinical and genetic characteristics, and the classification of the two forms of Emery-Dreifuss dystrophy [i.e. associated with either emerinopathy (EDMD1) or laminopathy (EDMD2)].


METHODS
The study includes 37 patients from 12 families with EDMD, 28 having emerinopathy and 9 with laminopathy. On the basis of findings from clinical examination and laboratory tests (24-hour ECG monitoring, echocardiography, histological and immunohistochemical studies of muscle), the authors describe phenotypes of the two forms of Emery-Dreifuss dystrophy, the natural course of the disease, and a possible severe cardiovascular involvement which may lead to severe cardiac complications and sudden death. The patients with EDMD were treated mainly by cardiologists. Besides symptomatic management, implantation of a cardiac pacemaker or cardioverter-defibrillator is often required.


CONCLUSIONS
The intrafamilial and interfamilial variability of laminopathies is discussed in relation to interactions between nuclear proteins. Since the EDMD carrier state in females is associated with cardiac symptoms (without skeletal muscle involvement), systematic cardiological supervision is indicated. Likewise, there are certain patients presenting a typical EDMD phenotype in which no mutations in the EMD or LMNA genes can be confirmed. This may indicate that an Emery-Dreifuss-like dystrophy could also be associated with mutations in other genes.
Hausmanowa-Petrusewicz
Irena
I
Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw. neurmyol@cmdik.pan.pl
Madej-Pilarczyk
Agnieszka
A
Marchel
Michał
M
Opolski
Grzegorz
G
D004247:DNA / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006331:Heart Diseases / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype
D034904:Lamin Type A; D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin; D004247:DNA