Overview
Polyglucosan body myopathy type 2 (PGBM2) is an extremely rare inherited muscle disease caused by changes in the GYG1 gene. This gene provides instructions for making glycogenin-1, a protein that plays a key role in how your body stores sugar (glucose) as glycogen in muscles. When this gene does not work properly, abnormal clumps of sugar-based material called polyglucosan bodies build up inside muscle cells. Over time, these deposits damage the muscle fibers and lead to progressive muscle weakness. People with PGBM2 typically notice slowly worsening weakness in the muscles of their arms and legs, often starting in adulthood. The weakness may affect the muscles closer to the trunk of the body (such as the thighs and upper arms) as well as those farther away (like the hands and feet). Some patients also develop heart problems, including cardiomyopathy, which is a weakening of the heart muscle. Exercise intolerance and fatigue are also common complaints. There is currently no cure for polyglucosan body myopathy type 2. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and regular monitoring of heart function are important parts of care. Because this condition is so rare, research is still ongoing to better understand the disease and develop new therapies.
Key symptoms:
Progressive muscle weakness in arms and legsDifficulty walking or climbing stairsWeakness in muscles close to the trunk (proximal weakness)Weakness in hands and feet (distal weakness)Exercise intoleranceFatigueHeart muscle weakness (cardiomyopathy)Muscle wastingDifficulty lifting objectsAbnormal heart rhythm in some casesDifficulty with fine motor tasks
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 Polyglucosan body myopathy type 2.
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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 Polyglucosan body myopathy type 2.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.How severe is my muscle weakness right now, and how fast is it likely to progress?,Should I have my heart checked, and how often should cardiac monitoring be done?,What types of physical therapy or exercise are safe and beneficial for me?,Are there any clinical trials or research studies I could participate in?,Should my family members be tested for the GYG1 gene mutation?,What assistive devices or home modifications might help me stay independent longer?,How will this condition affect my breathing, and when should I be concerned?
Common questions about Polyglucosan body myopathy type 2
What is Polyglucosan body myopathy type 2?
Polyglucosan body myopathy type 2 (PGBM2) is an extremely rare inherited muscle disease caused by changes in the GYG1 gene. This gene provides instructions for making glycogenin-1, a protein that plays a key role in how your body stores sugar (glucose) as glycogen in muscles. When this gene does not work properly, abnormal clumps of sugar-based material called polyglucosan bodies build up inside muscle cells. Over time, these deposits damage the muscle fibers and lead to progressive muscle weakness. People with PGBM2 typically notice slowly worsening weakness in the muscles of their arms and
How is Polyglucosan body myopathy type 2 inherited?
Polyglucosan body myopathy type 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Polyglucosan body myopathy type 2 typically begin?
Typical onset of Polyglucosan body myopathy type 2 is adult. Age of onset can vary across affected individuals.
Which specialists treat Polyglucosan body myopathy type 2?
1 specialists and care centers treating Polyglucosan body myopathy type 2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.