Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
central nervous system cardiac muscle endocrine system smooth muscle lens of the eye |
| gptkbp:alsoKnownAs |
gptkb:DM1
Steinert disease |
| gptkbp:category |
rare disease
muscular dystrophy trinucleotide repeat disorder |
| gptkbp:causedBy |
CTG trinucleotide repeat expansion
|
| gptkbp:complication |
gptkb:arrhythmia
respiratory failure cognitive impairment congenital form with severe neonatal symptoms |
| gptkbp:diagnosedBy |
genetic testing
electromyography |
| gptkbp:firstDescribed |
gptkb:Hans_Gustav_Wilhelm_Steinert
1909 |
| gptkbp:geneAffected |
gptkb:DMPK
|
| gptkbp:hasOrphanetID |
ORPHA:273
|
| https://www.w3.org/2000/01/rdf-schema#label |
myotonic dystrophy type 1
|
| gptkbp:ICD-10_code |
G71.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:inheritanceCharacteristic |
anticipation
|
| gptkbp:locatedOnChromosome |
chromosome 19q13.3
|
| gptkbp:OMIM |
160900
|
| gptkbp:onset |
congenital
adulthood |
| gptkbp:prevalence |
1 in 8,000 worldwide
|
| gptkbp:prognosis |
progressive
variable severity |
| gptkbp:relatedTo |
gptkb:myotonic_dystrophy_type_2
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
gptkb:cataracts
gptkb:myotonia muscle weakness insulin resistance dysphagia daytime sleepiness testicular atrophy cardiac conduction defects frontal balding |
| gptkbp:treatment |
physical therapy
symptomatic management cardiac monitoring |
| gptkbp:bfsParent |
gptkb:myotonic_dystrophy
|
| gptkbp:bfsLayer |
7
|