Statements (65)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
muscles
|
| gptkbp:associated_with |
gptkb:depression
gptkb:neurodegenerative_diseases anxiety fatigue chronic pain pain vision problems hearing loss increased risk of cancer exercise intolerance arrhythmias sudden cardiac death sleep apnea muscle stiffness increased risk of infections muscle hypertrophy cold intolerance cognitive impairment dysphagia muscle cramps skin problems muscle wasting dysarthria increased risk of metabolic syndrome endocrine disorders fatty liver disease hypotonia scoliosis hypersomnia autonomic dysfunction increased risk of stroke increased risk of falls joint problems neuropsychiatric symptoms increased risk of thrombosis facial weakness CTG repeat expansion increased risk of fractures increased risk of osteoporosis increased risk of disability increased risk of pulmonary complications |
| gptkbp:breeding_range |
chromosome 19
|
| gptkbp:caused_by |
DMPK gene mutation
|
| gptkbp:complications |
gptkb:diabetes
infertility respiratory issues gastrointestinal problems |
| gptkbp:condition |
gptkb:myotonic_dystrophy_type_2
|
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:first_described_by |
Harvey S. C. M. in 1909
|
| https://www.w3.org/2000/01/rdf-schema#label |
myotonic dystrophy type 1
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:premiered_on |
childhood to adulthood
|
| gptkbp:prevalence |
1 in 8000
|
| gptkbp:research_focus |
gptkb:gene_therapy
|
| gptkbp:risk_factor |
family history
|
| gptkbp:symptoms |
muscle weakness
cataracts cardiac issues myotonia |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|