Overview
Progressive scapulohumeroperoneal distal myopathy is an extremely rare inherited muscle disease that causes slowly worsening weakness in specific muscle groups. The name describes the pattern of muscles most affected: the scapular muscles (around the shoulder blades), humeral muscles (upper arms), peroneal muscles (lower legs near the shin), and distal muscles (hands, feet, and forearms). People with this condition typically notice difficulty raising their arms, winging of the shoulder blades (where the shoulder blades stick out from the back), foot drop (difficulty lifting the front of the foot), and weakness in the hands and lower legs. Over time, the weakness can spread to involve other muscle groups. This condition belongs to a group of disorders called distal myopathies, which primarily affect the muscles farthest from the center of the body. The disease is progressive, meaning symptoms get worse over time, though the rate of progression can vary between individuals. Because this is such a rare condition, treatment options are currently limited to supportive and symptomatic care. There is no cure or disease-modifying therapy available at this time. Management focuses on physical therapy, assistive devices such as ankle-foot orthoses for foot drop, and monitoring for complications like breathing difficulties or heart problems that can sometimes occur in myopathies.
Key symptoms:
Weakness in the shoulder blade area causing winging of the shoulder bladesDifficulty raising the arms above the headUpper arm weaknessFoot drop (trouble lifting the front of the foot while walking)Weakness in the lower legsWeakness in the hands and fingersWeakness in the forearmsDifficulty walking or frequent trippingMuscle wasting (loss of muscle bulk) in affected areasSteppage gait (high-stepping walk to compensate for foot drop)Difficulty with fine motor tasks like buttoning clothesProgressive loss of grip strengthFatigue during physical activities
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Progressive scapulohumeroperoneal distal myopathy.
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Specialists
View all specialists →No specialists are currently listed for Progressive scapulohumeroperoneal distal myopathy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Progressive scapulohumeroperoneal distal myopathy.
Community
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Caregiver Resources
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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.What specific pattern of muscle weakness do I have, and how does it match this diagnosis?,Is genetic testing available to confirm my diagnosis, and should my family members be tested?,How quickly is this condition likely to progress in my case?,What physical therapy or exercise program would be most helpful for me?,Should I be screened for heart or breathing problems, and how often?,Are there any clinical trials or research studies I could participate in?,What assistive devices or home modifications should I consider now or plan for in the future?
Common questions about Progressive scapulohumeroperoneal distal myopathy
What is Progressive scapulohumeroperoneal distal myopathy?
Progressive scapulohumeroperoneal distal myopathy is an extremely rare inherited muscle disease that causes slowly worsening weakness in specific muscle groups. The name describes the pattern of muscles most affected: the scapular muscles (around the shoulder blades), humeral muscles (upper arms), peroneal muscles (lower legs near the shin), and distal muscles (hands, feet, and forearms). People with this condition typically notice difficulty raising their arms, winging of the shoulder blades (where the shoulder blades stick out from the back), foot drop (difficulty lifting the front of the fo
How is Progressive scapulohumeroperoneal distal myopathy inherited?
Progressive scapulohumeroperoneal distal myopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive scapulohumeroperoneal distal myopathy typically begin?
Typical onset of Progressive scapulohumeroperoneal distal myopathy is adult. Age of onset can vary across affected individuals.