EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: EDMD7
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614302
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000467) Neck muscle weakness 29 / 7739
2
(HPO:0011675) Arrhythmia 226 / 7739
3
(HPO:0005110) Atrial fibrillation 71 / 7739
4
(HPO:0001662) Bradycardia 41 / 7739
5
(HPO:0003701) Proximal muscle weakness 105 / 7739
6
(HPO:0003560) Muscular dystrophy 88 / 7739
7
(HPO:0007126) Proximal amyotrophy 29 / 7739
8
(HPO:0003677) Slow progression 134 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Emery-Driefuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).

For a discussion of genetic heterogeneity of EDMD, see ...

Clinical Description OMIM Liang et al. (2011) reported 2 unrelated Japanese patients with adult-onset Emery-Dreifuss muscular dystrophy. The first patient was a 40-year-old man who was diagnosed with typical clinical EDMD with limb-girdle type muscular dystrophy with cardiac conduction defects and ...
Molecular genetics OMIM Based on the putative role for TMEM43 in the nuclear envelope, Liang et al. (2011) analyzed the TMEM43 gene in 41 patients with Emery-Dreifuss muscular dystrophy who were negative for mutations in known EDMD-related genes and identified different ...