X-linked Emery-Dreifuss muscular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: EDMD1
Number of Symptoms 37
OrphanetNr: 98863
OMIM Id: 300696
310300
ICD-10: G71.0
UMLs: C0751337
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 - PMID: 22431096 [IBIS]
Inheritance: X-linked recessive
- 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
Qualitative or quantitative defects of emerin
 -Rare genetic disease

Comment:

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:0003560) Muscular dystrophy 21993399 IBIS 88 / 7739
2
 (HPO:0003306) Spinal rigidity 21993399 IBIS 30 / 7739
3
 (HPO:0001252) Muscular hypotonia 21993399 IBIS 990 / 7739
4
 (HPO:0003307) Hyperlordosis 21993399 IBIS 122 / 7739
5
 (HPO:0011727) Peroneal muscle weakness 21993399 IBIS 6 / 7739
6
 (HPO:0009049) Peroneal muscle atrophy 21993399 IBIS 8 / 7739
7
 (HPO:0003198) Myopathy 15832002 IBIS 151 / 7739
8
 (HPO:0003236) Elevated serum creatine phosphokinase 15832002 IBIS 214 / 7739
9
 (HPO:0007126) Proximal amyotrophy 15832002 IBIS 29 / 7739
10
 (HPO:0008988) Pelvic girdle muscle atrophy 15832002 IBIS 5 / 7739
11
 (HPO:0003749) Pelvic girdle muscle weakness 21993399 IBIS 15 / 7739
12
 (HPO:0008944) Distal lower limb amyotrophy 15832002 IBIS 12 / 7739
13
 (HPO:0003325) Limb-girdle muscle weakness 15832002 IBIS 22 / 7739
14
 (HPO:0030319) Weakness of facial musculature 21993399 IBIS 4 / 7739
15
 (HPO:0009053) Distal lower limb muscle weakness 21993399 IBIS 13 / 7739
16
 (HPO:0008994) Proximal muscle weakness in lower limbs 15832002 IBIS 11 / 7739
17
 (HPO:0008997) Proximal muscle weakness in upper limbs 15832002 IBIS 4 / 7739
18
 (HPO:0001315) Reduced tendon reflexes 15832002 IBIS 160 / 7739
19
 (HPO:0006466) Ankle contracture 15832002 IBIS 17 / 7739
20
 (HPO:0002987) Elbow flexion contracture 15832002 IBIS 64 / 7739
21
 (HPO:0001771) Achilles tendon contracture 15832002 IBIS 27 / 7739
22
 (HPO:0030051) Tip-toe gait 15832002 IBIS 10 / 7739
23
 (HPO:0002515) Waddling gait 15832002 IBIS 56 / 7739
24
 (HPO:0005997) Restricted neck movement due to contractures 15832002 IBIS 4 / 7739
25
 (HPO:0001644) Dilated cardiomyopathy 25502304 IBIS 141 / 7739
26
 (HPO:0001288) Gait disturbance 15832002 IBIS 318 / 7739
27
 (HPO:0005110) Atrial fibrillation 15832002 IBIS 71 / 7739
28
 (HPO:0011675) Arrhythmia 15832002 IBIS 226 / 7739
29
 (HPO:0001962) Palpitations 25502304 IBIS 62 / 7739
30
 (HPO:0001662) Bradycardia 15832002 IBIS 41 / 7739
31
 (HPO:0005115) Supraventricular arrhythmia 21993399 IBIS 13 / 7739
32
 (HPO:0012664) Reduced ejection fraction 15832002 IBIS 32 / 7739
33
 (HPO:0002119) Ventriculomegaly 21993399 IBIS 253 / 7739
34
 (HPO:0002875) Exertional dyspnea 15832002 IBIS 29 / 7739
35
 (HPO:0001688) Sinus bradycardia 21993399 IBIS 18 / 7739
36
 (HPO:0001678) Atrioventricular block 21993399 IBIS 59 / 7739
37
 (HPO:0001645) Sudden cardiac death 15832002 IBIS 84 / 7739

Associated genes:

EMD;

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

Additional Information: