Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:abbreviation |
gptkb:DM2
|
| gptkbp:affects |
gptkb:skeletal_muscle
heart eyes endocrine system |
| gptkbp:alsoKnownAs |
proximal myotonic myopathy
|
| gptkbp:category |
rare disease
muscular dystrophy |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1994
|
| https://www.w3.org/2000/01/rdf-schema#label |
myotonic dystrophy type 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:inheritanceRisk |
50% for offspring of affected parent
|
| gptkbp:mutationAssociatedWith |
CNBP gene
|
| gptkbp:OMIM |
602668
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
less common than myotonic dystrophy type 1
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:relatedTo |
gptkb:myotonic_dystrophy_type_1
|
| gptkbp:repeatExpansion |
CCTG repeat in CNBP gene
|
| gptkbp:symptom |
gptkb:cataracts
gptkb:myotonia muscle pain muscle weakness cardiac conduction defects |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:myotonic_dystrophy
|
| gptkbp:bfsLayer |
7
|