Emery-Dreifuss muscular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: EDMD
Number of Symptoms 0
OrphanetNr: 261
OMIM Id: 181350
ICD-10: G71.0
UMLs: C0410189
MeSH: D020389
Snomed: 111508004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Neuromuscular disease with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Progressive muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease


This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
EMD rs104894805 pathogenic RCV000011928.17
EMD rs104894806 pathogenic RCV000011929.5
EMD rs132630262 pathogenic RCV000011926.2
EMD rs267606782 pathogenic RCV000011922.5
EMD rs398123156 likely pathogenic RCV000178044.1
EMD rs727503036 pathogenic RCV000150647.1
EMD rs727504901 likely pathogenic RCV000156286.1
EMD rs730880352 pathogenic RCV000155918.1
FHL1 rs122459148 pathogenic RCV000012312.14
FHL1 rs122459149 pathogenic RCV000012313.12
LMNA rs11575937 pathogenic RCV000190399.2
LMNA rs28928901 pathogenic RCV000015583.26
SYNE1 rs119103246 pathogenic RCV000002422.3
SYNE1 rs119103248 pathogenic RCV000002424.2
SYNE1 rs746438011 likely pathogenic RCV000190464.1
SYNE2 rs36215895 pathogenic RCV000002414.4
TMEM43 rs144811578 pathogenic RCV000033855.3
TMEM43 rs397514044 pathogenic RCV000033854.3

Additional Information:

Diagnosis GeneReviews The clinical diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) is based on the presence of the following triad [Emery 2000]:...
Clinical Description GeneReviews AD-EDMD and XL-EDMD have similar, but not identical, neuromuscular and cardiac involvement [Wulff et al 1997, Manilal et al 1998, Yates et al 1999, Bécane et al 2000, Bonne et al 2000, Felice et al 2000, Raffaele Di Barletta et al 2000, Brown et al 2001, Boriani et al 2003, Vytopil et al 2003, Gueneau et al 2009, Knoblauch et al 2010, Cowling et al 2011, Schessl et al 2011]. ...
Genotype-Phenotype Correlations GeneReviews EMD. The majority of EMD mutations are null mutations that result in complete absence of emerin expression in nuclei; however, intra- and interfamilial variability in the severity of the phenotype associated with null mutations may be observed [Muntoni et al 1998, Hoeltzenbein et al 1999, Canki-Klain et al 2000, Ellis et al 2000]. ...
Differential Diagnosis GeneReviews Some neuromuscular disorders result in a similar pattern of muscle involvement, joint contractures, or cardiac disease, but none features the triad observed in Emery-Dreifuss muscular dystrophy (EDMD). ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with Emery-Dreifuss muscular dystrophy (EDMD), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....