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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Unsteady gait, Muscle weakness, Difficulty swallowing (dysphagia), and Progressive external ophthalmoplegia; and common findings: Shrinkage of the cerebellum (cerebellar atrophy), Cytochrome C oxidase-negative muscle fibers, Ragged-red muscle fibers, and Increased circulating lactate concentration and others. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	17	Clonus, Cerebral cortical atrophy, Ataxia
Muscles	12	Shrinkage of the cerebellum (cerebellar atrophy), Cerebral cortical atrophy, Muscle spasm
Lab test results	2	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Increased circulating lactate concentration
Eyes	2	Bilateral ptosis, Ptosis
Bones and joints	2	Skeletal muscle atrophy, Postural instability
Heart and blood vessels	1	Complete right bundle branch block
Arms and legs	1	Lower limb muscle weakness
Digestive system	1	Difficulty swallowing (dysphagia)
Lungs and breathing	1	Difficulty breathing (respiratory insufficiency)

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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team