myotonic dystrophy type 1

URI: https://gptkb.org/entity/myotonic_dystrophy_type_1
GPTKB entity
Statements (52)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb: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 gptkb:muscular_dystrophy
gptkb:rare_disease
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
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:Avidity_Biosciences
gptkb:DMPK
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label myotonic dystrophy type 1