familial amyloid polyneuropathy
GPTKB entity
Statements (70)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:neurodegenerative_diseases
|
| gptkbp:affects |
gptkb:computer
|
| gptkbp:associated_with |
amyloid deposits
|
| gptkbp:caused_by |
mutations in the transthyretin gene
|
| gptkbp:clinical_trial |
gptkb:depression
anxiety fatigue sleep disturbances weight loss difficulty walking joint pain sensory loss difficulty swallowing numbness skin changes changes in bowel habits tingling swelling in limbs visual disturbances cognitive changes erectile dysfunction difficulty with fine motor skills gait abnormalities difficulty with balance orthostatic hypotension changes in blood pressure available for new therapies burning sensations changes in heart rate changes in reflexes changes in sensation changes in sexual function changes in sweating changes in temperature sensitivity changes in urination motor weakness |
| gptkbp:complications |
renal impairment
cardiac issues gastrointestinal problems |
| gptkbp:condition |
other amyloidosis types
|
| gptkbp:diagnosis |
genetic testing
nerve conduction studies |
| gptkbp:epidemiology |
varies by region
|
| gptkbp:first_described_by |
in the 20th century
|
| gptkbp:genetic_studies |
recommended for families
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial amyloid polyneuropathy
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:is_involved_in |
available for patients
|
| gptkbp:known_as |
gptkb:TTR_amyloidosis
|
| gptkbp:patient_education |
important for management
|
| gptkbp:patient_prognosis |
varies widely
|
| gptkbp:player_development |
can lead to severe disability
|
| gptkbp:premiered_on |
typically in adulthood
|
| gptkbp:prevalence |
more common in certain populations
|
| gptkbp:public_awareness |
increased in recent years
|
| gptkbp:research |
ongoing for better treatments
|
| gptkbp:research_focus |
treatment efficacy
genetic therapies pathophysiology |
| gptkbp:risk_factor |
family history
|
| gptkbp:symptoms |
nutritional support
physical therapy pain management peripheral neuropathy carpal tunnel syndrome autonomic dysfunction |
| gptkbp:treatment |
liver transplantation
medications to stabilize transthyretin |
| gptkbp:bfsParent |
gptkb:Transthyretin_amyloidosis
|
| gptkbp:bfsLayer |
6
|