Overview
Proximal myopathy with extrapyramidal signs (PMES) is an extremely rare genetic condition that affects both the muscles and the movement control centers of the brain. The disease causes weakness in the muscles closest to the center of the body, such as the shoulders, upper arms, hips, and thighs (called proximal muscles). In addition, people with this condition develop extrapyramidal signs, which are movement problems that can include stiffness, tremors, slow movements, and difficulty coordinating voluntary actions — similar to what is seen in Parkinson's disease or other movement disorders. Symptoms typically begin in adulthood and tend to get worse over time. People may first notice difficulty climbing stairs, rising from a chair, or lifting their arms above their heads. As the disease progresses, the movement abnormalities become more noticeable, and daily activities can become increasingly challenging. Some patients may also experience difficulty swallowing or speaking. Because this condition is so rare, treatment options are currently limited to managing symptoms. Physical therapy, occupational therapy, and medications that address movement problems may help improve quality of life. There is no cure at this time, and research into this condition is still in its early stages. Genetic counseling is recommended for affected families to understand the inheritance pattern and risks to other family members.
Key symptoms:
Weakness in the shoulders and upper armsWeakness in the hips and thighsMuscle stiffness or rigidityTremorSlow movementsDifficulty walkingTrouble climbing stairsDifficulty rising from a seated positionProblems with balance and coordinationDifficulty swallowingSpeech difficultiesMuscle wasting over timeInvoluntary movements
Clinical phenotype terms (25)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Proximal myopathy with extrapyramidal signs.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Proximal myopathy with extrapyramidal signs at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Proximal myopathy with extrapyramidal signs.
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 Proximal myopathy with extrapyramidal signs.
Community
No community posts yet. Be the first to share your experience with Proximal myopathy with extrapyramidal signs.
Start the conversation →Latest news about Proximal myopathy with extrapyramidal signs
No recent news articles for Proximal myopathy with extrapyramidal signs.
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.What specific genetic testing should I have to confirm this diagnosis?,How quickly is this condition likely to progress in my case?,Are there any medications that might help with my movement symptoms?,What type of physical therapy program would be most beneficial for me?,Should my family members be tested for this condition?,Are there any clinical trials or research studies I could participate in?,What support services are available to help me maintain my independence?
Common questions about Proximal myopathy with extrapyramidal signs
What is Proximal myopathy with extrapyramidal signs?
Proximal myopathy with extrapyramidal signs (PMES) is an extremely rare genetic condition that affects both the muscles and the movement control centers of the brain. The disease causes weakness in the muscles closest to the center of the body, such as the shoulders, upper arms, hips, and thighs (called proximal muscles). In addition, people with this condition develop extrapyramidal signs, which are movement problems that can include stiffness, tremors, slow movements, and difficulty coordinating voluntary actions — similar to what is seen in Parkinson's disease or other movement disorders.
How is Proximal myopathy with extrapyramidal signs inherited?
Proximal myopathy with extrapyramidal signs follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Proximal myopathy with extrapyramidal signs typically begin?
Typical onset of Proximal myopathy with extrapyramidal signs is adult. Age of onset can vary across affected individuals.