OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy

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Overview

MYH7-related late-onset scapuloperoneal muscular dystrophy is a rare inherited muscle disease that primarily affects the muscles around the shoulder blades (scapular muscles) and the lower legs (peroneal muscles). This condition is caused by changes (mutations) in the MYH7 gene, which provides instructions for making a protein called beta-myosin heavy chain — a key building block of muscle fibers. Because this entry is marked as 'OBSOLETE' in Orphanet, it means the classification has been updated and this condition is now generally grouped under broader MYH7-related myopathies, including Laing distal myopathy or other scapuloperoneal syndromes. Symptoms typically begin in adulthood, often after age 30 or later, and progress slowly over many years. People with this condition may first notice difficulty lifting their arms overhead, foot drop (trouble lifting the front of the foot), and a waddling or steppage gait. Over time, weakness can spread to other muscle groups. Some individuals may also develop heart problems because the MYH7 gene is active in both skeletal and heart muscle. There is currently no cure for this condition. Treatment focuses on managing symptoms, maintaining mobility through physical therapy, and monitoring heart function. Assistive devices such as ankle-foot braces can help with walking. Genetic counseling is recommended for affected families.

Also known as:

Key symptoms:

Weakness in the shoulder blade musclesFoot drop (difficulty lifting the front of the foot)Difficulty raising arms above the headWaddling or steppage gaitWinging of the shoulder bladesMuscle wasting in the lower legsSlowly progressive muscle weaknessDifficulty climbing stairsTripping or frequent fallsPossible heart muscle problems (cardiomyopathy)

Inheritance

Autosomal dominant

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

Age of Onset

Late onset

Begins later in life, typically after age 50

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy.

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No actively recruiting trials found for OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy community →

No specialists are currently listed for OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy.

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 OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy.

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Community

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Latest news about OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How will this condition likely progress in my specific case?,Should I have regular heart monitoring, and how often?,What types of physical therapy or exercise are safe and beneficial for me?,Are there any clinical trials I might be eligible for?,Should my family members be tested for the MYH7 gene mutation?,What assistive devices might help me maintain independence?,Are there any activities or medications I should avoid?

Common questions about OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy

What is OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy?

MYH7-related late-onset scapuloperoneal muscular dystrophy is a rare inherited muscle disease that primarily affects the muscles around the shoulder blades (scapular muscles) and the lower legs (peroneal muscles). This condition is caused by changes (mutations) in the MYH7 gene, which provides instructions for making a protein called beta-myosin heavy chain — a key building block of muscle fibers. Because this entry is marked as 'OBSOLETE' in Orphanet, it means the classification has been updated and this condition is now generally grouped under broader MYH7-related myopathies, including Laing

How is OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy inherited?

OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy typically begin?

Typical onset of OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy is late onset. Age of onset can vary across affected individuals.