Autosomal dominant Emery-Dreifuss muscular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: EDMD2
Number of Symptoms 24
OrphanetNr: 98853
OMIM Id: 181350
612998
612999
614302
ICD-10: G71.0
UMLs: C0410190
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
- PMID: 15832002 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Emery-Dreifuss muscular dystrophy
 -Rare cardiac disease
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) and autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2, AD-EDMD) are allelic disorders. LGMD1B is a slowly progressive limb girdle muscular dystrophy, with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. AD-ADMD is characterized by early contractures of elbows and Achilles tendons and a humero-peroneal distribution of weakness combined with a cardiomyopathy with conduction defects (PMID:10814726). X-linked Emery-Dreifuss muscular dystrophy (EDMD1, XR-EDMD) and Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2, AD-EDMD) share clinically undistinguishable features (PMID:15832002).

Symptom Information: Sort by abundance 

1
 (HPO:0011675) Arrhythmia 10814726 IBIS 226 / 7739
2
 (HPO:0005150) Abnormal atrioventricular conduction 10814726 IBIS 16 / 7739
3
 (HPO:0001638) Cardiomyopathy 10814726 IBIS 192 / 7739
4
 (HPO:0006380) Knee flexion contracture 19070492 IBIS 56 / 7739
5
 (HPO:0006466) Ankle contracture 19070492 IBIS 17 / 7739
6
 (HPO:0001692) Primary atrial arrhythmia 15832002 IBIS 16 / 7739
7
 (HPO:0001678) Atrioventricular block 15832002 IBIS 59 / 7739
8
 (HPO:0003560) Muscular dystrophy 15832002 IBIS 88 / 7739
9
 (HPO:0003198) Myopathy 15832002 IBIS 151 / 7739
10
 (HPO:0003236) Elevated serum creatine phosphokinase 15832002 IBIS 214 / 7739
11
 (HPO:0001315) Reduced tendon reflexes 15832002 IBIS 160 / 7739
12
 (HPO:0001771) Achilles tendon contracture 15832002 IBIS 27 / 7739
13
 (HPO:0002987) Elbow flexion contracture 15832002 IBIS 64 / 7739
14
 (HPO:0004631) Decreased cervical spine flexion due to contractures of posterior cervical muscles 15832002 IBIS 4 / 7739
15
 (HPO:0007126) Proximal amyotrophy 15832002 IBIS 29 / 7739
16
 (HPO:0008944) Distal lower limb amyotrophy 15832002 IBIS 12 / 7739
17
 (HPO:0009053) Distal lower limb muscle weakness 15832002 IBIS 13 / 7739
18
 (HPO:0008997) Proximal muscle weakness in upper limbs 15832002 IBIS 4 / 7739
19
 (HPO:0008994) Proximal muscle weakness in lower limbs 15832002 IBIS 11 / 7739
20
 (HPO:0002355) Difficulty walking 15832002 IBIS 61 / 7739
21
 (HPO:0003724) Shoulder girdle muscle atrophy 15832002 IBIS 14 / 7739
22
 (HPO:0003547) Shoulder girdle muscle weakness 15832002 IBIS 21 / 7739
23
 (HPO:0001962) Palpitations 15832002 IBIS 62 / 7739
24
 (HPO:0002321) Vertigo 15832002 IBIS 58 / 7739

Associated genes:

LMNA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
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: