Friedreich ataxia
Findings
No curated finding names Friedreich ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.
Definition from the Mondo Disease Ontology (MONDO:0100339), read 2026-09-29. CC BY 4.0.
Features
53 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Gait ataxiaHPOHP:0002066
- Obligate (100% of cases)
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
- Gait imbalanceHPOHP:0002141
- Very frequent (80% to 99% of cases)
- Hand muscle atrophyHPOHP:0009130
- Very frequent (80% to 99% of cases)
- Impaired proprioceptionHPOHP:0010831
- Very frequent (80% to 99% of cases)
- Limb ataxia
Show the remaining 41
- AcrocyanosisHPOHP:0001063
- Frequent (30% to 79% of cases)
- Areflexia of lower limbsHPOHP:0002522
- Frequent (30% to 79% of cases)
- CardiomyopathyHPOHP:0001638
- Frequent (30% to 79% of cases)
- Cervical spinal cord atrophyHPOHP:0010873
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FXNHGNC:3951
- Definitive · ClinGen · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Friedreich ataxia
- Also called
- FAFRDAFriedreich's Ataxia