Overview
ISPD-related limb-girdle muscular dystrophy R20 (LGMD R20), also known as LGMD2U or muscular dystrophy-dystroglycanopathy type C7, is a rare inherited muscle disease caused by changes (mutations) in the ISPD gene (also called CRPPA). This gene plays an important role in a chemical process called glycosylation of a protein known as alpha-dystroglycan. When this protein is not properly modified, it cannot do its job of connecting muscle fibers to the surrounding tissue, which leads to progressive muscle weakness and damage. The disease primarily affects the muscles around the hips and shoulders (the limb-girdle muscles), making it harder over time to walk, climb stairs, lift objects, and perform everyday activities. Symptoms typically begin in childhood or adolescence, though the age of onset and severity can vary. Some patients may also experience elevated levels of creatine kinase (CK) in the blood, which is a marker of muscle damage. In some cases, the brain and eyes may also be mildly affected, though this is more common in the severe end of the spectrum of dystroglycanopathies. There is currently no cure for LGMD R20. Treatment focuses on managing symptoms and maintaining function for as long as possible. This includes physical therapy, occupational therapy, assistive devices, and monitoring for complications such as breathing difficulties or heart problems. Research into gene therapy and other disease-modifying treatments for dystroglycanopathies is ongoing, offering hope for future options.
Also known as:
Key symptoms:
Progressive weakness in hip and thigh musclesProgressive weakness in shoulder and upper arm musclesDifficulty walking and climbing stairsFrequent fallsDifficulty raising arms above the headWaddling gaitEnlarged calf muscles (pseudohypertrophy)Elevated creatine kinase (CK) levels in bloodDifficulty getting up from the floorFatigue during physical activityJoint stiffness or contracturesBreathing difficulties in advanced stagesPossible mild intellectual difficulties in some casesPossible mild eye abnormalities in some cases
Clinical phenotype terms (16)— 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 ISPD-related limb-girdle muscular dystrophy R20.
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Specialists
View all specialists →No specialists are currently listed for ISPD-related limb-girdle muscular dystrophy R20.
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 ISPD-related limb-girdle muscular dystrophy R20.
Community
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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.How quickly is the muscle weakness likely to progress in my case or my child's case?,How often should we have pulmonary function tests and heart evaluations?,What physical therapy program do you recommend, and how often should sessions occur?,Are there any clinical trials or experimental treatments available for ISPD-related dystroglycanopathy?,When should we consider using mobility aids like braces or a wheelchair?,Should other family members be tested for carrier status?,What signs or symptoms should prompt an urgent visit to the emergency room?
Common questions about ISPD-related limb-girdle muscular dystrophy R20
What is ISPD-related limb-girdle muscular dystrophy R20?
ISPD-related limb-girdle muscular dystrophy R20 (LGMD R20), also known as LGMD2U or muscular dystrophy-dystroglycanopathy type C7, is a rare inherited muscle disease caused by changes (mutations) in the ISPD gene (also called CRPPA). This gene plays an important role in a chemical process called glycosylation of a protein known as alpha-dystroglycan. When this protein is not properly modified, it cannot do its job of connecting muscle fibers to the surrounding tissue, which leads to progressive muscle weakness and damage. The disease primarily affects the muscles around the hips and shoulders
How is ISPD-related limb-girdle muscular dystrophy R20 inherited?
ISPD-related limb-girdle muscular dystrophy R20 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.