sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Findings
No curated finding names sensory ataxic neuropathy, dysarthria, and ophthalmoparesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
Definition from the Mondo Disease Ontology (MONDO:0011835), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
74 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
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Multiple mitochondrial DNA deletionsHPOHP:0003689
- 2 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 7 of 7 reported patients
- Progressive external ophthalmoplegiaHPOHP:0000590
- 1 of 1 reported patient
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.
- POLGHGNC:9179
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Also called
- epilepsy, progressive myoclonic, type 5EPM5mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)PME type 5PRICKLE2 progressive myoclonic epilepsyprogressive myoclonic epilepsy caused by mutation in PRICKLE2progressive myoclonus epilepsy type 5SANDO