Hereditary inclusion body myopathy type 4

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Overview

Hereditary inclusion body myopathy type 4 (HIBM4) is a very rare genetic muscle disease that causes progressive weakness and wasting of the skeletal muscles. It belongs to a group of conditions called inclusion body myopathies, which are named after the abnormal clumps of protein (called inclusion bodies) that can be seen inside muscle cells when examined under a microscope. These inclusion bodies are a hallmark feature that helps distinguish this condition from other types of muscle disease. HIBM4 primarily affects the muscles used for movement, leading to gradual difficulty with walking, climbing stairs, lifting objects, and performing everyday tasks. The weakness typically begins in certain muscle groups and spreads over time. Patients may notice that their muscles become thinner and weaker as the disease progresses. The condition is caused by genetic mutations and is inherited in families. Currently, there is no cure for HIBM4. Treatment focuses on managing symptoms, maintaining mobility and function for as long as possible, and improving quality of life. Physical therapy, occupational therapy, and assistive devices are commonly used to help patients stay active and independent. Research into potential therapies is ongoing, but options remain limited due to the extreme rarity of this condition.

Also known as:

Key symptoms:

Progressive muscle weaknessMuscle wasting (muscles getting thinner over time)Difficulty walking or climbing stairsTrouble lifting arms above the headFrequent tripping or fallingDifficulty getting up from a chair or the floorFoot drop (difficulty lifting the front of the foot)Fatigue during physical activityReduced grip strengthJoint contractures (stiffness in joints)Difficulty with fine motor tasks like buttoning clothes

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 ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hereditary inclusion body myopathy type 4.

View clinical trials →

No actively recruiting trials found for Hereditary inclusion body myopathy type 4 at this time.

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Search ClinicalTrials.gov ↗Join the Hereditary inclusion body myopathy type 4 community →

No specialists are currently listed for Hereditary inclusion body myopathy type 4.

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 type 4.

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Community

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Caregiver Resources

NORD Caregiver Resources

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

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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.What specific genetic mutation is causing my condition, and how was it identified?,How quickly is this disease likely to progress in my case?,What physical therapy or exercise program do you recommend to help maintain my strength?,Are there any clinical trials or experimental treatments I might be eligible for?,Should my family members be tested for this genetic mutation?,What signs should I watch for that would indicate my breathing or swallowing is being affected?,What assistive devices or home modifications might help me stay independent longer?

Common questions about Hereditary inclusion body myopathy type 4

What is Hereditary inclusion body myopathy type 4?

Hereditary inclusion body myopathy type 4 (HIBM4) is a very rare genetic muscle disease that causes progressive weakness and wasting of the skeletal muscles. It belongs to a group of conditions called inclusion body myopathies, which are named after the abnormal clumps of protein (called inclusion bodies) that can be seen inside muscle cells when examined under a microscope. These inclusion bodies are a hallmark feature that helps distinguish this condition from other types of muscle disease. HIBM4 primarily affects the muscles used for movement, leading to gradual difficulty with walking, cl

How is Hereditary inclusion body myopathy type 4 inherited?

Hereditary inclusion body myopathy type 4 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 type 4 typically begin?

Typical onset of Hereditary inclusion body myopathy type 4 is adult. Age of onset can vary across affected individuals.