Properties (58)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associated_with |
cognitive function
ataxia sensory loss foot deformities muscle atrophy heart problems dysarthria diabetes complications spinal cord degeneration |
| gptkbp:causedBy |
loss of coordination
FRDA gene mutations |
| gptkbp:designatedAs |
a rare disease
|
| gptkbp:diseaseResistance |
genetic testing
childhood or early adulthood |
| gptkbp:documentedIn |
medical literature
|
| gptkbp:has_a_focus_on |
fundraising efforts
patient advocacy groups |
| https://www.w3.org/2000/01/rdf-schema#label |
Friedreich's ataxia
|
| gptkbp:impact |
quality of life
nervous system |
| gptkbp:includes |
genetic counseling discussions
|
| gptkbp:inheritsFrom |
autosomal recessive inheritance
|
| gptkbp:introduced |
gptkb:Nikolaus_Friedreich
|
| gptkbp:is_a_subject_of |
medical research
|
| gptkbp:is_aimed_at |
1 in 50,000
|
| gptkbp:is_characterized_by |
loss of proprioception
progressive symptoms gait and limb ataxia |
| gptkbp:is_featured_in |
other ataxias
|
| gptkbp:is_governed_by |
physical therapy
occupational therapy medications for symptoms |
| gptkbp:is_linked_to |
mitochondrial dysfunction
peripheral neuropathy oxidative stress neurodegeneration impaired balance |
| gptkbp:is_monitored_by |
healthcare_professionals
|
| gptkbp:is_part_of |
genetic research initiatives
the_Friedreich's_ataxia_research_community |
| gptkbp:is_recognized_for |
gptkb:Friedreich's_Ataxia_Awareness_Day
health organizations |
| gptkbp:is_studied_in |
clinical trials
potential treatments biomarker_identification |
| gptkbp:is_used_in |
people_of_European_descent
|
| gptkbp:leads |
hypertrophic cardiomyopathy
diabetes mellitus early mortality |
| gptkbp:related_to |
other spinocerebellar ataxias
|
| gptkbp:researchInterest |
gene therapy
|
| gptkbp:resultedIn |
wheelchair dependence
|
| gptkbp:symptoms |
muscle weakness
scoliosis loss of reflexes vision impairment |
| gptkbp:worksWith |
neurologists
|