Statements (69)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
muscles
|
| gptkbp:associated_with |
gptkb:diabetes
gptkb:depression anxiety cognitive decline fatigue social isolation chronic pain pain vision problems hearing loss joint pain respiratory problems increased risk of cancer intellectual disability difficulty swallowing sudden cardiac death sleep apnea muscle stiffness increased risk of infections dysphagia muscle cramps increased risk of diabetes increased risk of heart disease muscle wasting dysarthria endocrine disorders scoliosis hypersomnia baldness gastrointestinal issues autonomic dysfunction skin issues increased risk of stroke mobility issues neuropsychiatric symptoms testicular atrophy facial weakness fatigue syndrome |
| gptkbp:caused_by |
DMPK gene mutation
|
| gptkbp:clinical_trial |
available
|
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:difficulty_levels |
varies
|
| gptkbp:first_described_by |
1909
|
| gptkbp:genetic_studies |
CNBP gene analysis
DMPK gene analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
Myotonic dystrophy
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:is_involved_in |
available
|
| gptkbp:lifespan |
varies
|
| gptkbp:premiered_on |
childhood
adulthood |
| gptkbp:prevalence |
1 in 8,000
|
| gptkbp:research |
ongoing
|
| gptkbp:research_focus |
gptkb:gene_therapy
improving quality of life understanding pathophysiology symptom management |
| gptkbp:symptoms |
muscle weakness
cataracts cardiac issues myotonia |
| gptkbp:treatment |
medications
physical therapy |
| gptkbp:type |
Type 1
Type 2 |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|