|
gptkbp:instanceOf
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genetic disorder
muscular dystrophy
|
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gptkbp:affects
|
gptkb:skeletal_muscle
heart
central nervous system
eyes
endocrine system
|
|
gptkbp:alsoKnownAs
|
gptkb:dystrophia_myotonica
|
|
gptkbp:associatedWith
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gptkb:CNBP
gptkb:DMPK
|
|
gptkbp:category
|
rare disease
muscular dystrophy
multisystem disorder
|
|
gptkbp:causedBy
|
trinucleotide repeat expansion
|
|
gptkbp:complication
|
gptkb:arrhythmia
respiratory failure
infertility
cognitive impairment
|
|
gptkbp:diagnosedBy
|
genetic testing
electromyography
|
|
gptkbp:firstDescribed
|
gptkb:Hans_Gustav_Wilhelm_Steinert
|
|
gptkbp:hasType
|
gptkb:myotonic_dystrophy_type_1
gptkb:myotonic_dystrophy_type_2
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
myotonic dystrophy
|
|
gptkbp:ICD-10_code
|
G71.1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19_(type_1)
gptkb:chromosome_3_(type_2)
|
|
gptkbp:namedAfter
|
gptkb:myotonia
muscular dystrophy
|
|
gptkbp:OMIM
|
160900
|
|
gptkbp:onset
|
congenital
adulthood
|
|
gptkbp:prevalence
|
1 in 8,000 worldwide
|
|
gptkbp:prognosis
|
progressive
variable severity
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:cataracts
gptkb:myotonia
muscle weakness
insulin resistance
daytime sleepiness
testicular atrophy
baldness
cardiac conduction defects
|
|
gptkbp:treatment
|
physical therapy
symptomatic management
assistive devices
cardiac monitoring
|
|
gptkbp:bfsParent
|
gptkb:muscular_dystrophy
|
|
gptkbp:bfsLayer
|
6
|