|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:neurodegenerative_disease
|
|
gptkbp:abbreviation
|
gptkb:FRDA
|
|
gptkbp:affects
|
gptkb:nervous_system
cardiovascular system
musculoskeletal system
|
|
gptkbp:causedBy
|
mutation in FXN gene
|
|
gptkbp:complication
|
gptkb:arrhythmia
gptkb:diabetes
heart failure
|
|
gptkbp:containsGene
|
gptkb:FXN
|
|
gptkbp:diagnosedBy
|
gptkb:neurological_examination
MRI
genetic testing
electromyography
echocardiogram
|
|
gptkbp:firstDescribed
|
gptkb:Nikolaus_Friedreich
1863
|
|
gptkbp:frequency
|
1 in 40,000 to 50,000 people
|
|
gptkbp:hasCarrierFrequency
|
1 in 90 to 100 people
|
|
gptkbp:hasGeneticMutationType
|
gptkb:GAA_trinucleotide_repeat_expansion
|
|
gptkbp:hasInheritanceRisk
|
25% if both parents are carriers
|
|
gptkbp:hasOrphanetID
|
ORPHA95
|
|
gptkbp:hasProteinDeficiency
|
gptkb:frataxin
|
|
gptkbp:hasResearchCenter
|
gptkb:gene_therapy
iron chelation therapy
antioxidant therapy
|
|
gptkbp:ICD-10_code
|
G11.1
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D001285
|
|
gptkbp:OMIM
|
229300
|
|
gptkbp:onset
|
childhood
adolescence
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:prognosis
|
progressive
reduced life expectancy
wheelchair dependence within 10-20 years of onset
|
|
gptkbp:symptom
|
gptkb:diabetes_mellitus
gptkb:cardiomyopathy
muscle weakness
scoliosis
ataxia
loss of coordination
dysarthria
|
|
gptkbp:treatment
|
supportive care
physical therapy
speech therapy
cardiac management
|
|
gptkbp:bfsParent
|
gptkb:Ataxia
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Friedreich's ataxia
|