Living with Autosomal recessive progressive external ophthalmoplegia
A genetic condition that slowly weakens the muscles around the eyes and can affect other muscles.
Understanding Autosomal recessive progressive external ophthalmoplegia
The weakness causes drooping eyelids (ptosis) and trouble moving the eyes. Other signs can include weakness in other muscles, nerve problems, balance trouble, heart muscle disease, and psychiatric symptoms. It is usually more severe than the autosomal dominant form and can begin at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness of the eye muscles (external ophthalmoplegia)
- Muscle disease (mitochondrial myopathy)
- Heart muscle disease (cardiomyopathy)
- Nerve damage (peripheral neuropathy)
- Pins and needles feeling
- 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, 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); 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
Changes in genes (also called variants) cause this condition. GARD lists autosomal recessive and mitochondrial inheritance but does not name a gene here.
Also known as: arpeo; arpeo- autosomal recessive progressive external ophthalmoplegia; progressive external ophthalmoplegia, autosomal recessive
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 Autosomal recessive progressive external ophthalmoplegia.
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