Late-onset scapuloperoneal muscular dystrophy with hyaline bodies

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Overview

Late-onset scapuloperoneal muscular dystrophy with hyaline bodies is a very rare inherited muscle disease that causes progressive weakness in specific muscle groups. The name describes where the weakness tends to appear: the shoulder blade area (scapular) and the lower legs and feet (peroneal). 'Hyaline bodies' refers to abnormal clumps of protein material seen inside muscle cells when a biopsy sample is examined under a microscope. These protein deposits are a hallmark feature that helps doctors identify this condition. The disease typically begins in adulthood, often in middle age or later, which is why it is called 'late-onset.' People usually first notice difficulty lifting their arms above their head, weakness around the shoulder blades causing the shoulder blades to stick out (a feature called 'winged scapula'), and weakness in the lower legs that can cause foot drop — a difficulty lifting the front part of the foot when walking. Over time, weakness may spread to other muscle groups. There is currently no cure for this condition. Treatment focuses on managing symptoms, maintaining mobility, and improving quality of life. Physical therapy, occupational therapy, and assistive devices such as ankle-foot orthoses (braces) play an important role in daily management. A team of specialists is usually needed to provide the best care.

Also known as:

Key symptoms:

Weakness around the shoulder blades, making it hard to lift arms overheadShoulder blades that stick out from the back (winged scapula)Weakness in the lower legs and feetFoot drop — difficulty lifting the front of the foot when walking, causing tripping or a high-stepping gaitMuscle wasting (shrinking) in the shoulders and lower legsDifficulty climbing stairsTrouble with activities that require raising the armsGradual spread of weakness to other muscle groups over timeAbnormal protein clumps (hyaline bodies) in muscle tissue seen on biopsy

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 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies.

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No actively recruiting trials found for Late-onset scapuloperoneal muscular dystrophy with hyaline bodies at this time.

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No specialists are currently listed for Late-onset scapuloperoneal muscular dystrophy with hyaline bodies.

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 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies.

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Community

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Caregiver Resources

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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 condition likely to progress, and what signs should I watch for?,Should my children or siblings be tested for this condition?,What therapies or exercises are most helpful at my current stage of weakness?,Do I need regular breathing or heart monitoring, and how often?,Are there any clinical trials or research studies I might be eligible for?,What assistive devices or home modifications would help me stay safe and independent?

Common questions about Late-onset scapuloperoneal muscular dystrophy with hyaline bodies

What is Late-onset scapuloperoneal muscular dystrophy with hyaline bodies?

Late-onset scapuloperoneal muscular dystrophy with hyaline bodies is a very rare inherited muscle disease that causes progressive weakness in specific muscle groups. The name describes where the weakness tends to appear: the shoulder blade area (scapular) and the lower legs and feet (peroneal). 'Hyaline bodies' refers to abnormal clumps of protein material seen inside muscle cells when a biopsy sample is examined under a microscope. These protein deposits are a hallmark feature that helps doctors identify this condition. The disease typically begins in adulthood, often in middle age or later,

How is Late-onset scapuloperoneal muscular dystrophy with hyaline bodies inherited?

Late-onset scapuloperoneal muscular dystrophy with hyaline bodies follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Late-onset scapuloperoneal muscular dystrophy with hyaline bodies typically begin?

Typical onset of Late-onset scapuloperoneal muscular dystrophy with hyaline bodies is late onset. Age of onset can vary across affected individuals.