Living with Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
A rare inherited muscle condition with early weakness, stiff joints, and trouble moving the eyes.
Understanding Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
It starts early with weakness in the muscles close to the body's center or throughout the body. People have weak eye movement (external ophthalmoplegia), with or without drooping eyelids, and stiff joints (contractures). Some have low muscle tone, newborn breathing trouble needing a ventilator, and severe trouble swallowing. Severity varies, it is non- or slowly progressive, and people typically remain able to walk.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, it can include:
- Muscle weakness
- Trouble moving the eyes (ophthalmoplegia)
- Drooping eyelids (ptosis)
- Stiff joints (contractures)
- Low muscle tone (hypotonia)
- 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 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); 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
It is caused by changes in the MYH2 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: hereditary inclusion body myopathy type 3; hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome; hibm3; ibm3; inclusion body myopathy type 3
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 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome.
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