Overview
Scapuloperoneal spinal muscular atrophy (also called SPSMA or scapuloperoneal SMA) is a rare inherited nerve and muscle disease. It belongs to a group of conditions called spinal muscular atrophies, where the nerve cells in the spinal cord that control muscle movement slowly break down over time. The name describes where weakness tends to show up first: the shoulder blade area (scapular) and the lower legs and feet (peroneal). This pattern of weakness is one of the most recognizable features of the disease. People with this condition usually notice weakness and wasting of the muscles around the shoulder blades, making it hard to lift the arms above the head. At the same time, or sometimes later, the muscles in the lower legs weaken, which can cause foot drop — a condition where the foot hangs down and makes walking difficult. Some people also develop problems with their voice or swallowing if the nerves controlling those muscles are affected. There is currently no cure for scapuloperoneal spinal muscular atrophy. Treatment focuses on managing symptoms, maintaining mobility, and improving quality of life. Physical therapy, occupational therapy, and assistive devices like ankle-foot braces are commonly used. A team of specialists works together to help people stay as active and independent as possible. The disease tends to progress slowly in most people, and many individuals live a normal or near-normal lifespan.
Also known as:
Key symptoms:
Weakness and wasting of muscles around the shoulder bladesDifficulty lifting arms above the headWeakness in the lower legs and feetFoot drop (the foot hangs down, making it hard to walk normally)Winging of the shoulder blades (they stick out from the back)Muscle wasting in the calves and lower legsDifficulty walking or frequent tripping and fallingWeakness that slowly gets worse over timePossible voice changes or hoarsenessPossible difficulty swallowing in some casesReduced reflexes in affected limbs
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Scapuloperoneal spinal muscular atrophy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Scapuloperoneal spinal muscular atrophy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Scapuloperoneal spinal muscular atrophy.
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 Scapuloperoneal spinal muscular atrophy.
Community
No community posts yet. Be the first to share your experience with Scapuloperoneal spinal muscular atrophy.
Start the conversation →Latest news about Scapuloperoneal spinal muscular atrophy
No recent news articles for Scapuloperoneal spinal muscular atrophy.
Follow this condition to be notified when news becomes available.
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.Which gene is causing my condition, and what does that mean for my family members?,How quickly do you expect my weakness to progress, based on my current exam and test results?,What therapies or braces would help me most right now?,Should I have my breathing tested, and how often should it be monitored?,Are there any clinical trials I might be eligible for?,What warning signs should prompt me to seek urgent medical care?,Are there patient registries or support groups I should know about?
Common questions about Scapuloperoneal spinal muscular atrophy
What is Scapuloperoneal spinal muscular atrophy?
Scapuloperoneal spinal muscular atrophy (also called SPSMA or scapuloperoneal SMA) is a rare inherited nerve and muscle disease. It belongs to a group of conditions called spinal muscular atrophies, where the nerve cells in the spinal cord that control muscle movement slowly break down over time. The name describes where weakness tends to show up first: the shoulder blade area (scapular) and the lower legs and feet (peroneal). This pattern of weakness is one of the most recognizable features of the disease. People with this condition usually notice weakness and wasting of the muscles around t
How is Scapuloperoneal spinal muscular atrophy inherited?
Scapuloperoneal spinal muscular atrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.