Features include common findings: Ophthalmoplegia, Atypical behavior, Hashimoto thyroiditis, and Seizure and others; and sometimes findings: Dysarthria.

Biomarker and diagnostic research for recessive mitochondrial ataxia syndrome has been reported in the published literature.

Phenotype severity distribution: 21 common features.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for recessive mitochondrial ataxia syndrome. Research spans Review / Meta-Analysis (50%), Diagnostic / Biomarker (17%), and Clinical Trial Publication (17%).

Recent Publications

• Bermejo-Guerrero L (2026). [PMID: 41822038](https://pubmed.ncbi.nlm.nih.gov/41822038/). *Neurology. Genetics*. [Diagnostic / Biomarker]

• Sharma S (2024). [PMID: 38975939](https://pubmed.ncbi.nlm.nih.gov/38975939/). *Journal of neurogenetics*. [Review / Meta-Analysis]

• Lopriore P (2024). [PMID: 38673663](https://pubmed.ncbi.nlm.nih.gov/38673663/). *Journal of clinical medicine*. [Review / Meta-Analysis]

• Pekeles H (2024). [PMID: 39091670](https://pubmed.ncbi.nlm.nih.gov/39091670/). *EClinicalMedicine*. [Clinical Trial Publication]

• Kang Y (2024). [PMID: 38570685](https://pubmed.ncbi.nlm.nih.gov/38570685/). *Nature*. [Basic Science / Preclinical]