Overview
GMPPB-related congenital muscular dystrophy is a rare inherited muscle disorder caused by changes (mutations) in the GMPPB gene. This gene provides instructions for making an enzyme that helps attach sugar molecules to a protein called alpha-dystroglycan, which is essential for muscle function. When this process does not work properly, muscles become weak and may not develop normally. This condition is part of a group of disorders called dystroglycanopathies. Note: This specific Orphanet entry (363629) is labeled as 'OBSOLETE,' meaning it has been reclassified or merged into a broader category of GMPPB-related disorders, which can range from severe congenital muscular dystrophy to milder limb-girdle muscular dystrophy. Patients with the congenital (present at birth) form typically show significant muscle weakness from birth or early infancy, low muscle tone (floppiness), difficulty feeding, and delayed motor milestones such as sitting and walking. Some individuals may also have intellectual disability, seizures, or eye abnormalities. There is currently no cure for GMPPB-related congenital muscular dystrophy. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy, occupational therapy, respiratory support if breathing muscles are affected, and seizure management when needed. A multidisciplinary team of specialists is essential for comprehensive care. Research into potential therapies, including gene-based approaches, is ongoing but still in early stages.
Also known as:
Key symptoms:
Severe muscle weakness from birthLow muscle tone (floppiness)Difficulty feeding as a babyDelayed motor milestones like sitting and walkingDifficulty breathing due to weak respiratory musclesSeizures or epilepsyIntellectual disability or learning difficultiesEye abnormalities or vision problemsJoint stiffness or contracturesCurved spine (scoliosis)Elevated creatine kinase levels in bloodDifficulty swallowingFatigue and low energyReduced ability to move independently
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: GMPPB-related congenital muscular dystrophy.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: GMPPB-related congenital muscular dystrophy.
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 OBSOLETE: GMPPB-related congenital muscular dystrophy.
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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 child's form of GMPPB-related muscular dystrophy, and what can we expect over time?,What therapies should we start right away to give my child the best chance at development?,Does my child need breathing support, and how will respiratory function be monitored?,Are there any clinical trials or emerging treatments we should know about?,What seizure medications are safest and most effective for this condition?,Should other family members be tested to see if they carry the gene mutation?,What resources and support services are available for our family?
Common questions about OBSOLETE: GMPPB-related congenital muscular dystrophy
What is OBSOLETE: GMPPB-related congenital muscular dystrophy?
GMPPB-related congenital muscular dystrophy is a rare inherited muscle disorder caused by changes (mutations) in the GMPPB gene. This gene provides instructions for making an enzyme that helps attach sugar molecules to a protein called alpha-dystroglycan, which is essential for muscle function. When this process does not work properly, muscles become weak and may not develop normally. This condition is part of a group of disorders called dystroglycanopathies. Note: This specific Orphanet entry (363629) is labeled as 'OBSOLETE,' meaning it has been reclassified or merged into a broader categor
How is OBSOLETE: GMPPB-related congenital muscular dystrophy inherited?
OBSOLETE: GMPPB-related congenital muscular dystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: GMPPB-related congenital muscular dystrophy typically begin?
Typical onset of OBSOLETE: GMPPB-related congenital muscular dystrophy is neonatal. Age of onset can vary across affected individuals.