Autosomal recessive Emery-Dreifuss muscular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT
EDMD3, INCLUDED
EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED
HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE, INCLUDED
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY
EDMD3
EDMD2
EMD2
Number of Symptoms 29
OrphanetNr: 98855
OMIM Id: 181350
ICD-10: G71.0
UMLs: C1450051
MeSH: D020389
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
22431096 [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:

Recessive forms of LMNA mutations are very uncommon (PMID:22431096). AR-EDMD (EDMD3) is caused by homozygous mutation of LMNA. Two patients had homozygous LMNA R482Q mutations demonstrated by genomic DNA sequencing. The few previously reported cases of AR EDMD have been variable in phenotypic severity, ranging from severe to mild (PMID:23313286). Autosomal recessive Emery–Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C (LMNA) gene has been described in a further case study with 6 siblings, four showing a homozygous mutation (PMID:22431096).

Symptom Information: Sort by abundance 

1
 (HPO:0001315) Reduced tendon reflexes 23313286 IBIS 160 / 7739
2
 (HPO:0001288) Gait disturbance 22431096 IBIS 318 / 7739
3
 (HPO:0003560) Muscular dystrophy 22431096 IBIS 88 / 7739
4
 (HPO:0003233) Hypoalphalipoproteinemia 23313286 IBIS 18 / 7739
5
 (HPO:0002155) Hypertriglyceridemia 23313286 IBIS 67 / 7739
6
 (HPO:0003236) Elevated serum creatine phosphokinase 23313286 IBIS 214 / 7739
7
 (HPO:0005110) Atrial fibrillation 23313286 IBIS 71 / 7739
8
 (HPO:0003701) Proximal muscle weakness 22431096 IBIS 105 / 7739
9
 (HPO:0003749) Pelvic girdle muscle weakness 23313286 IBIS 15 / 7739
10
 (HPO:0008988) Pelvic girdle muscle atrophy 22431096 IBIS 5 / 7739
11
 (HPO:0003547) Shoulder girdle muscle weakness 23313286 IBIS 21 / 7739
12
 (HPO:0003724) Shoulder girdle muscle atrophy 22431096 IBIS 14 / 7739
13
 (HPO:0003325) Limb-girdle muscle weakness 23313286 IBIS 22 / 7739
14
 (HPO:0003797) Limb-girdle muscle atrophy 22431096 IBIS 8 / 7739
15
 (HPO:0001999) Abnormal facial shape 18348272 IBIS 169 / 7739
16
 (HPO:0005328) Progeroid facial appearance 23313286 IBIS 13 / 7739
17
 (HPO:0000347) Micrognathia 23313286 IBIS 426 / 7739
18
 (HPO:0002938) Lumbar hyperlordosis 23313286 IBIS 73 / 7739
19
 (HPO:0002650) Scoliosis 23313286 IBIS 705 / 7739
20
 (HPO:0009125) Lipodystrophy 23313286 IBIS 54 / 7739
21
 (HPO:0007340) Lower limb muscle weakness 23313286 IBIS 61 / 7739
22
 (HPO:0000508) Ptosis 23313286 IBIS 459 / 7739
23
 (HPO:0002987) Elbow flexion contracture 23313286 IBIS 64 / 7739
24
 (HPO:0006466) Ankle contracture 23313286 IBIS 17 / 7739
25
 (HPO:0011675) Arrhythmia 22431096 IBIS 226 / 7739
26
 (HPO:0005115) Supraventricular arrhythmia 22431096 IBIS 13 / 7739
27
 (HPO:0001771) Achilles tendon contracture 22431096 IBIS 27 / 7739
28
 (HPO:0001962) Palpitations 22431096 IBIS 62 / 7739
29
 (HPO:0005997) Restricted neck movement due to contractures 22431096 IBIS 4 / 7739

Associated genes:

LMNA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
LMNA rs11575937 pathogenic RCV000190399.2
LMNA rs28928901 pathogenic RCV000015583.26

Additional Information:

Description: (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 ...
Clinical Description OMIM Jennekens et al. (1975) reported 2 unrelated Dutch families in which 26 members had slowly progressive muscle weakness with scapulo-ilio-peroneal distribution and late-onset cardiomyopathy. Inheritance was autosomal dominant. Disease onset ranged from 17 to 42 years, and cardiomyopathy ...
Molecular genetics OMIM In affected members of 5 families with autosomal dominant EDMD, Bonne et al. (1999) identified 4 mutations in the LMNA gene that cosegregated with the disease phenotype (150330.0001-150330.0004). These findings represented the first identification of mutations in a ...