Overview
Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R, also known as LGMD R18 or desmin-related LGMD) is a rare inherited muscle disease caused by changes (mutations) in the DES gene, which provides instructions for making a protein called desmin. Desmin is an important structural protein found in muscle cells that helps them maintain their shape and function properly. When desmin does not work correctly, the muscles gradually weaken and break down over time. This condition primarily affects the muscles closest to the center of the body, particularly those around the hips (pelvic girdle) and shoulders (shoulder girdle). People with LGMD2R typically notice progressive weakness in their legs first, making it harder to climb stairs, stand up from a seated position, or walk long distances. Over time, the arms and shoulder muscles may also become weak. Some individuals may also develop heart problems (cardiomyopathy) or breathing difficulties because the heart and respiratory muscles can also be affected. There is currently no cure for LGMD2R. Treatment focuses on managing symptoms and maintaining quality of life. This includes physical therapy to preserve muscle strength and flexibility, assistive devices for mobility, and regular monitoring of heart and lung function. Because this disease is extremely rare, research is still ongoing to better understand its progression and develop new therapies.
Key symptoms:
Progressive weakness in hip and thigh musclesProgressive weakness in shoulder and upper arm musclesDifficulty climbing stairsDifficulty standing up from a chair or the floorWaddling gait or changes in walking patternMuscle wasting (loss of muscle bulk)Fatigue during physical activityDifficulty raising arms overheadPossible heart muscle problems (cardiomyopathy)Possible breathing difficultiesMuscle stiffness or crampingElevated creatine kinase (CK) levels in blood tests
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 Autosomal recessive limb-girdle muscular dystrophy type 2R.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive limb-girdle muscular dystrophy type 2R.
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 Autosomal recessive limb-girdle muscular dystrophy type 2R.
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.What is the expected rate of progression for my specific case of LGMD2R?,How often should I have my heart and lung function checked?,What types of physical therapy or exercise are safe and beneficial for me?,Are there any clinical trials or emerging treatments I should know about?,Should my family members be tested for carrier status?,What signs or symptoms should prompt me to seek emergency care?,What resources or support groups are available for people with limb-girdle muscular dystrophy?
Common questions about Autosomal recessive limb-girdle muscular dystrophy type 2R
What is Autosomal recessive limb-girdle muscular dystrophy type 2R?
Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R, also known as LGMD R18 or desmin-related LGMD) is a rare inherited muscle disease caused by changes (mutations) in the DES gene, which provides instructions for making a protein called desmin. Desmin is an important structural protein found in muscle cells that helps them maintain their shape and function properly. When desmin does not work correctly, the muscles gradually weaken and break down over time. This condition primarily affects the muscles closest to the center of the body, particularly those around the hips (pelvic
How is Autosomal recessive limb-girdle muscular dystrophy type 2R inherited?
Autosomal recessive limb-girdle muscular dystrophy type 2R follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.