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Features include: Visual loss, Skeletal muscle atrophy, Difficulty swallowing (dysphagia), and Slowness of movement (bradykinesia) and 14 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Difficulty swallowing (dysphagia), Slowness of movement (bradykinesia), Dystonia |
Biomarker and diagnostic research for Leber optic atrophy and dystonia has been reported in the published literature.
3 clinical trials registered, 3 recruiting. Interventions under study include other interventions, medical devices, and procedural interventions. Pipeline includes 3 NA. Research is sponsored by a mix of industry and academic institutions.
116 publications have been identified in PubMed for Leber optic atrophy and dystonia. Research spans Basic Science / Preclinical (26%), Review / Meta-Analysis (21%), and Case Report / Case Series (20%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 30 |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:52 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber optic atrophy and dystonia
3 |
Skeletal muscle atrophy, Leber optic atrophy, Damage to the optic nerve (optic atrophy) |
Eyes | 3 | Abnormal eye movements (abnormality of eye movement), Leber optic atrophy, Damage to the optic nerve (optic atrophy) |
Bones and joints | 2 | Skeletal muscle atrophy, Sideways curvature of the spine (scoliosis) |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Lab test results | 1 | Increased circulating lactate concentration |
Research summaries | 24 | 21% |
Patient case studies | 23 | 20% |
Disease patterns and progression | 19 | 16% |
Testing and diagnosis research | 7 | 6% |
Clinical study results | 7 | 6% |
New treatment approaches | 6 | 5% |
Khanna RK (2026). [PMID: 42061574](https://pubmed.ncbi.nlm.nih.gov/42061574/). *Surv Ophthalmol*. [Review / Meta-Analysis]
Clarke JE (2026). [PMID: 41698820](https://pubmed.ncbi.nlm.nih.gov/41698820/). *AJNR Am J Neuroradiol*. [Diagnostic / Biomarker]
Takai Y (2026). [PMID: 40601176](https://pubmed.ncbi.nlm.nih.gov/40601176/). *Jpn J Ophthalmol*. [Diagnostic / Biomarker]
Iwaki Y (2026). [PMID: 41553591](https://pubmed.ncbi.nlm.nih.gov/41553591/). *Doc Ophthalmol*. [Basic Science / Preclinical]
Wong DCS (2026). [PMID: 41318849](https://pubmed.ncbi.nlm.nih.gov/41318849/). *Eye (Lond)*. [Review / Meta-Analysis]
Nair AP (2026). [PMID: 41764869](https://pubmed.ncbi.nlm.nih.gov/41764869/). *Acta Histochem*. [Basic Science / Preclinical]
Gök A (2026). [PMID: 42172467](https://pubmed.ncbi.nlm.nih.gov/42172467/). *Turk J Pediatr*. [Case Report / Case Series]
Arany ES (2026). [PMID: 40346165](https://pubmed.ncbi.nlm.nih.gov/40346165/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Wu J (2026). [PMID: 41779224](https://pubmed.ncbi.nlm.nih.gov/41779224/). *Mol Neurobiol*. [Case Report / Case Series]
De Napoli G (2026). [PMID: 41483035](https://pubmed.ncbi.nlm.nih.gov/41483035/). *Neurol Sci*. [Case Report / Case Series]