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Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11
Features include: Abnormal heart rhythm on EKG (abnormal ekg), Abnormality of peripheral nerve conduction, Concentric hypertrophic cardiomyopathy, and Mitochondrial malic enzyme reduced and 19 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 4 | Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormality of the cardiovascular system |
Biomarker and diagnostic research for Friedreich ataxia 2 has been reported in the published literature.
No clinical trials have been registered for Friedreich ataxia 2.
135 publications have been identified in PubMed for Friedreich ataxia 2. Kisho has analyzed 91 by research type. Research spans Basic Science / Preclinical (22%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (19%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 20 | 22% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Brain and nerves |
3 |
Ataxia, Babinski sign, Dysarthria |
Lab test results | 2 | Abnormal heart rhythm on EKG (abnormal ekg), Decreased pyruvate carboxylase activity |
Muscles | 2 | Muscular subvalvular aortic stenosis, Reduced tendon reflexes |
Eyes | 1 | Nystagmus |
Bones and joints | 1 | Sideways curvature of the spine (scoliosis) |
Disease patterns and progression
19 |
21% |
Research summaries | 17 | 19% |
Clinical study results | 15 | 16% |
Testing and diagnosis research | 10 | 11% |
New treatment approaches | 7 | 8% |
Patient case studies | 2 | 2% |
Other research | 1 | 1% |
Meisel JD (2026). [PMID: 41372402](https://pubmed.ncbi.nlm.nih.gov/41372402/). *Nature*. [Basic Science / Preclinical]
Devore MC (2026). [PMID: 41432640](https://pubmed.ncbi.nlm.nih.gov/41432640/). *Hum Mol Genet*. [Epidemiology / Natural History]
Maccora S (2026). [PMID: 42143837](https://pubmed.ncbi.nlm.nih.gov/42143837/). *Clin Neurophysiol*. [Diagnostic / Biomarker]
Grobe-Einsler M (2026). [PMID: 41488489](https://pubmed.ncbi.nlm.nih.gov/41488489/). *Lancet Reg Health Eur*. [Diagnostic / Biomarker]
Erdmann H (2026). [PMID: 40898875](https://pubmed.ncbi.nlm.nih.gov/40898875/). *Brain*. [Epidemiology / Natural History]
Want K (2026). [PMID: 41372413](https://pubmed.ncbi.nlm.nih.gov/41372413/). *Nature*. [Basic Science / Preclinical]
Peppel L (2026). [PMID: 40350965](https://pubmed.ncbi.nlm.nih.gov/40350965/). *J Neuropsychiatry Clin Neurosci*. [Other]
Hulme AJ (2026). [PMID: 41364594](https://pubmed.ncbi.nlm.nih.gov/41364594/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Lischewski SA (2026). [PMID: 41070559](https://pubmed.ncbi.nlm.nih.gov/41070559/). *Mov Disord*. [Epidemiology / Natural History]
Concepción J (2026). [PMID: 41524968](https://pubmed.ncbi.nlm.nih.gov/41524968/). *Cerebellum*. [Epidemiology / Natural History]