Statements (66)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
muscles
|
| gptkbp:associated_with |
gptkb:diabetes
gptkb:depression anxiety cognitive decline muscle pain sleep disturbances chronic pain hearing loss exercise intolerance sleep apnea cataracts respiratory issues behavioral changes social withdrawal muscle cramps skin problems sensitivity to heat fatty liver disease hypogonadism gastrointestinal issues emotional lability cardiac issues increased risk of falls joint problems pain syndromes sensitivity to cold neuropsychiatric symptoms fatigue syndrome endocrine problems |
| gptkbp:caused_by |
CNBP gene mutation
|
| gptkbp:clinical_trial |
available
|
| gptkbp:condition |
gptkb:myotonic_dystrophy_type_1
|
| gptkbp:diagnosis |
variable
genetic testing family history clinical evaluation genetic confirmation |
| gptkbp:difficulty_levels |
varies among individuals
|
| gptkbp:family |
relevant
|
| gptkbp:first_described_by |
1990s
|
| gptkbp:genetic_studies |
important
recommended |
| https://www.w3.org/2000/01/rdf-schema#label |
myotonic dystrophy type 2
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:premiered_on |
adulthood
|
| gptkbp:prevalence |
rare disorder
|
| gptkbp:research |
ongoing studies
|
| gptkbp:research_focus |
gptkb:gene_therapy
symptom management pathophysiology |
| gptkbp:symptoms |
fatigue
muscle weakness muscle stiffness cognitive impairment dysphagia dysarthria facial weakness myotonia difficulty releasing grip |
| gptkbp:treatment |
medications
physical therapy occupational therapy |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|