Emery-Dreifuss Muscular Dystrophy 2
Emery-Dreifuss 2

Contact us
Return to database

Description from OMIM

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (310300) is an X-linked disorder caused by mutation in the emerin gene (EMD; 300384) on Xq28 (Emery, 1989). For a discussion of genetic heterogeneity of EDMD, see 310300.

Prevalence of clinical parameters (%)

Add new symptom/sign to this disease

Select symptom from list or write it in the box
Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address

List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Myopathy skeletal 100 % 10939567 2014-01-28
Increased blood CK skeletal 91 % 10939567 2014-01-28
Muscle weakness skeletal 77 % 10939567 2014-01-28
Contracture skeletal 77 % 10939567 2014-01-28
Muscle atrophy skeletal 77 % 10939567 2014-01-28
Cardiac arrhythmia circulatory 43 % 10939567 2014-01-28
Pacemakers implanted circulatory 11 % 10939567 2014-01-28
Scoliosis skeletal 9 % 10939567 2014-01-28

List of references:

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
G Bonne, E Mercuri, A Muchir, A Urtizberea, H M B├ęcane, D Recan, L Merlini, M Wehnert, R Boor, U Reuner, M Vorgerd, E M Wicklein, B Eymard, D Duboc, I Penisson-Besnier, J M Cuisset, X Ferrer, I Desguerre, D Lacombe, K Bushby, C Pollitt, D Toniolo, M Fardeau, K Schwartz, F Muntoni,

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify a common phenotype among the patients with skeletal muscle involvement, consisting of humeroperoneal wasting and weakness, scapular winging, rigidity of the spine, and elbow and Achilles tendon contractures. The disease course was generally slow, but we observed either a milder phenotype characterized by late onset and a mild degree of weakness and contractures or a more severe phenotype with early presentation and a rapidly progressive course in a few cases. Mutation analysis identified 18 mutations in LMNA (i.e., 1 nonsense mutation, 2 deletions of a codon, and 15 missense mutations). All the mutations were distributed between exons 1 and 9 in the region of LMNA that is common to lamins A and C. LMNA mutations arose de novo in 76% of the cases; 2 of these de novo mutations were typical hot spots, and 2 others were identified in 2 unrelated cases. There was no clear correlation between the phenotype and type or localization of the mutations within the gene. Moreover, a marked inter- and intra-familial variability in the clinical expression of LMNA mutations exists, ranging from patients expressing the full clinical picture of EDMD to those characterized only by cardiac involvement, which points toward a significant role of possible modifier genes in the course of this disease. In conclusion, the high proportion of de novo mutations together with the large spectrum of both LMNA mutations and the expression of the disease should now prompt screening for LMNA in familial and sporadic cases of both EDMD and dilated cardiomyopathy associated with conduction system disease.

Annals of neurology - Aug 2000