progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
Definition from the Mondo Disease Ontology (MONDO:0014899), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
35 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.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 6 of 6 reported patients
- Multiple mitochondrial DNA deletionsHPOHP:0003689
- 6 of 6 reported patients
- Ragged-red muscle fibersHPOHP:0003200
- 5 of 6 reported patients
- Adult onset sensorineural hearing impairmentHPOHP:0008615
- Frequent (30% to 79% of cases)
- Bilateral ptosisHPOHP:0001488
- Frequent (30% to 79% of cases)
- DysphagiaHPO
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.
- DGUOKHGNC:2858
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
- Also called
- adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyadult-onset multiple mtDNA deletion syndrome due to DGUOK deficiencyPEOB4progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4