EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: EDMD5
Number of Symptoms 11
OrphanetNr:
OMIM Id: 612999
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001638) Cardiomyopathy 192 / 7739
2
(HPO:0011675) Arrhythmia 226 / 7739
3
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
(HPO:0002093) Respiratory insufficiency 410 / 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:0011463) Childhood onset 65 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Muscle weakness and atrophy, proximal 5 / 7739
11
(HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zhang et al. (2007) reported a man who presented with proximal upper limb weakness and winged scapulae at age 8 years. Serum creatine kinase was increased and he later developed minor respiratory insufficiency. Skeletal muscle biopsy at age ...
Molecular genetics OMIM In 3 affected individuals from a family with autosomal dominant EDMD, Zhang et al. (2007) identified a heterozygous mutation in the SYNE2 gene (T89M; 608442.0001) that segregated with the disorder. In a second family, the affected mother was ...