Overview
GMPPB-related limb-girdle muscular dystrophy R19 (also called LGMD R19 or LGMD2T) is a rare inherited muscle disease 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 dystroglycan, which is essential for keeping muscles strong and functioning properly. When this process does not work correctly, it leads to a group of conditions known as dystroglycanopathies. People with LGMD R19 typically experience progressive weakness in the muscles around the hips and shoulders (the limb-girdle area). This means activities like climbing stairs, getting up from a chair, lifting objects overhead, or walking long distances become increasingly difficult over time. Some individuals may also experience fatigue, muscle cramps, and elevated levels of creatine kinase (CK) in the blood, which is a marker of muscle damage. In some cases, the eyes or brain may also be mildly affected, though this varies widely between individuals. There is currently no cure for LGMD R19. Treatment focuses on managing symptoms and maintaining function for as long as possible. This includes physical therapy, occupational therapy, assistive devices, and regular monitoring by a team of specialists. Research into gene therapy and other disease-modifying treatments for dystroglycanopathies is ongoing, offering hope for future options.
Also known as:
Key symptoms:
Weakness in the hip and thigh musclesWeakness in the shoulder and upper arm musclesDifficulty climbing stairsTrouble getting up from the floor or a chairWaddling walkFatigue and reduced staminaMuscle cramps or painElevated creatine kinase (CK) levels in blood testsDifficulty raising arms overheadProgressive loss of walking ability in some casesMild intellectual disability in some individualsEye problems such as cataracts in some casesDifficulty with balanceBreathing difficulties in advanced stagesScoliosis or spine curvature
Clinical phenotype terms (25)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for GMPPB-related limb-girdle muscular dystrophy R19.
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Rare Disease Specialist
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 GMPPB-related limb-girdle muscular dystrophy R19.
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my (or my child's) form of LGMD R19 based on the genetic mutations found?,How often should heart and lung function be checked?,What physical therapy program would be most beneficial?,Are there any clinical trials or research studies we could participate in?,What signs should prompt me to seek emergency care?,Should other family members be tested for carrier status?,What assistive devices or home modifications should we consider now or plan for in the future?
Common questions about GMPPB-related limb-girdle muscular dystrophy R19
What is GMPPB-related limb-girdle muscular dystrophy R19?
GMPPB-related limb-girdle muscular dystrophy R19 (also called LGMD R19 or LGMD2T) is a rare inherited muscle disease 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 dystroglycan, which is essential for keeping muscles strong and functioning properly. When this process does not work correctly, it leads to a group of conditions known as dystroglycanopathies. People with LGMD R19 typically experience progressive weakness in the muscles around the hips and shoulders (the limb-girdle area).
How is GMPPB-related limb-girdle muscular dystrophy R19 inherited?
GMPPB-related limb-girdle muscular dystrophy R19 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat GMPPB-related limb-girdle muscular dystrophy R19?
1 specialists and care centers treating GMPPB-related limb-girdle muscular dystrophy R19 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.