Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

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ORPHA:79091OMIM:605637G71.8
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Overview

Hereditary inclusion body myopathy with joint contractures and ophthalmoplegia (also known as HIBM with contractures and ophthalmoplegia, or sometimes referred to by the acronym HIBMO) is a rare inherited muscle disease. It belongs to a group of conditions called inclusion body myopathies, which are named for the abnormal protein clumps (called 'inclusions') that build up inside muscle cells and damage them over time. This disease affects the muscles in several ways at once: it causes progressive muscle weakness, stiffness and tightening of the joints (called contractures), and weakness of the eye muscles that control eye movement (called ophthalmoplegia), which can make it hard to move the eyes normally or keep them open. The muscle weakness tends to get worse slowly over time and can affect the arms, legs, and other parts of the body, making everyday tasks like walking, climbing stairs, and lifting objects increasingly difficult. Joint contractures can limit how far you can bend or straighten your joints, adding to mobility challenges. Because the eye muscles are also involved, some people experience drooping eyelids (ptosis) or double vision. There is currently no cure for this condition. Treatment focuses on managing symptoms, maintaining function, and improving quality of life. Physical therapy, occupational therapy, and assistive devices play an important role. A team of specialists is usually needed to address the different aspects of this complex disease.

Also known as:

Key symptoms:

Progressive muscle weakness in the arms and legsDifficulty walking or climbing stairsStiff or tight joints that cannot fully bend or straighten (contractures)Drooping eyelids (ptosis)Difficulty moving the eyes in all directions (ophthalmoplegia)Double visionMuscle wasting (loss of muscle bulk over time)Difficulty with fine hand movementsFatigue with physical activityProblems with balance and coordination

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome.

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No actively recruiting trials found for Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome at this time.

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No specialists are currently listed for Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which gene is causing my condition, and what does that mean for my family members?,How quickly is this disease likely to progress in my case?,What therapies or exercises can help me maintain my strength and mobility for as long as possible?,Should I have my breathing or swallowing checked regularly, and how often?,Are there any clinical trials I might be eligible for?,What signs should prompt me to seek urgent medical attention?,Are there patient registries or support groups I can join to connect with others who have this condition?

Common questions about Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

What is Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome?

Hereditary inclusion body myopathy with joint contractures and ophthalmoplegia (also known as HIBM with contractures and ophthalmoplegia, or sometimes referred to by the acronym HIBMO) is a rare inherited muscle disease. It belongs to a group of conditions called inclusion body myopathies, which are named for the abnormal protein clumps (called 'inclusions') that build up inside muscle cells and damage them over time. This disease affects the muscles in several ways at once: it causes progressive muscle weakness, stiffness and tightening of the joints (called contractures), and weakness of the

How is Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome inherited?

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome typically begin?

Typical onset of Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome is adult. Age of onset can vary across affected individuals.