Properties (54)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advertising |
gptkb:Friedreich's_Ataxia_Awareness_Day
social media campaigns fundraising events |
| gptkbp:associatedWith |
gptkb:cardiomyopathy
vision problems hearing loss ataxia foot deformities diabetes mellitus dysarthria scoliosis gait abnormalities loss of reflexes |
| gptkbp:causedBy |
mutations in the FXN gene
|
| gptkbp:clinicalTrials |
ongoing
gene therapy trials drug trials |
| gptkbp:demographics |
1 in 50,000
|
| gptkbp:diseaseResistance |
genetic testing
|
| gptkbp:environmentalImpact |
may reduce life expectancy
|
| gptkbp:firstDescribedBy |
1863
|
| gptkbp:geneticDiversity |
chromosome 9
|
| gptkbp:hasCapacity |
educational resources
support groups online communities |
| gptkbp:hasService |
family history
clinical evaluation neurological examination |
| https://www.w3.org/2000/01/rdf-schema#label |
Friedreich's Ataxia
|
| gptkbp:impact |
physical therapy
social interactions employment challenges occupational therapy nervous system mental health concerns independence issues medications for symptoms mobility challenges |
| gptkbp:namedAfter |
gptkb:Nikolaus_Friedreich
|
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:notableFeature |
notable individuals with the condition
|
| gptkbp:nutritionalValue |
frataxin
|
| gptkbp:occursAnnually |
childhood to early adulthood
|
| gptkbp:research |
government grants
private donations |
| gptkbp:researchFocus |
gene therapy
neuroprotective strategies |
| gptkbp:researchInterest |
Friedreich's_Ataxia_Research_Alliance
|
| gptkbp:symptoms |
diabetes
muscle weakness heart disease loss of coordination scoliosis |