Living with Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
A rare mitochondrial condition starting in adulthood, with weak eye and body muscles, drooping eyelids, and balance problems.
Understanding Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
It involves slowly worsening weakness of the eye muscles (progressive external ophthalmoplegia), trouble with exercise, muscle weakness, and balance and speech problems from the cerebellum. It can also cause mild nerve problems in the limbs. Some people have trouble breathing from weak breathing muscles.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak eye muscles (progressive external ophthalmoplegia)
- Drooping of both eyelids (ptosis)
- Trouble exercising
- Muscle weakness in the limbs
- Slurred speech (dysarthria)
- Trouble swallowing (dysphagia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It lists autosomal dominant and mitochondrial inheritance, but doesn't name a gene.
Also known as: adult-onset cpeo (chronic progressive external ophthalmoplegia) with mitochondrial myopathy; adult-onset cpeo with mitochondrial myopathy
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy.
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