Living with Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
A rare genetic muscle condition beginning in childhood that mainly limits eye movement and causes mild, slowly progressing weakness.
Understanding Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Children have severe weakness of the eye muscles (external ophthalmoplegia), usually without drooping eyelids. They also have mild muscle weakness and wasting that gets worse very slowly. It affects muscles of the face, neck, and limbs. A muscle biopsy shows certain changes in the muscle fibers.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes these features:
- Limited eye movement
- Mild muscle weakness that worsens slowly
- Muscle wasting (atrophy)
- Weakness in the face and neck
- Weakness in the arms and legs
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.
- 3Consider genetic testing
Changes in MYH2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 the MYH2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Childhood-onset autosomal recessive myopathy with external ophthalmoplegia.
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