Overview
Dysferlin-related limb-girdle muscular dystrophy R2 (also called LGMD R2, LGMD2B, or dysferlinopathy) is a rare inherited muscle disease caused by changes in the DYSF gene. This gene provides instructions for making a protein called dysferlin, which helps repair the outer membrane of muscle cells when they get damaged. Without enough working dysferlin, muscle cells break down faster than they can be repaired, leading to progressive muscle weakness and wasting. The disease mainly affects the muscles around the hips, thighs, and shoulders — the 'limb-girdle' muscles. Most people first notice weakness in the legs, especially difficulty climbing stairs, running, or rising from a chair. Over time, weakness can spread to the upper body. A related condition called Miyoshi myopathy, caused by the same gene, starts with weakness in the calf muscles instead. Both are forms of dysferlinopathy. There is currently no cure for LGMD R2. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring for complications. Many people with this condition remain able to walk for years after diagnosis, but most eventually need mobility aids. With good supportive care, life expectancy is generally not significantly shortened, though quality of life can be greatly affected.
Also known as:
Key symptoms:
Weakness in the hip and thigh muscles, making it hard to climb stairs or get up from a chairWeakness in the shoulder and upper arm musclesDifficulty running or walking long distancesMuscle wasting (muscles look smaller than normal)Calf muscle weakness or, in some cases, enlarged calves early in the diseaseWaddling gait or changes in the way you walkDifficulty raising arms above the headFrequent fallsMuscle pain or cramps, especially after exerciseVery high levels of creatine kinase (CK) in the blood, a sign of muscle damageGradual loss of the ability to walk in later stages
Clinical phenotype terms (29)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventArtgen Biotech
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Dysferlin-related limb-girdle muscular dystrophy R2.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Dysferlin-related limb-girdle muscular dystrophy R2.
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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.What specific mutations did genetic testing find in my DYSF gene, and what do they mean for my prognosis?,How often should I have my lung function and heart checked, and what signs should prompt me to come in sooner?,Is physical therapy recommended for me, and are there any exercises I should avoid?,Are there any clinical trials for dysferlinopathy that I might be eligible for?,Should my family members be tested, and what does this diagnosis mean for my children or siblings?,Are there any medications I should avoid that could make my muscle disease worse?,What community resources or patient support groups are available to help me and my family?
Common questions about Dysferlin-related limb-girdle muscular dystrophy R2
What is Dysferlin-related limb-girdle muscular dystrophy R2?
Dysferlin-related limb-girdle muscular dystrophy R2 (also called LGMD R2, LGMD2B, or dysferlinopathy) is a rare inherited muscle disease caused by changes in the DYSF gene. This gene provides instructions for making a protein called dysferlin, which helps repair the outer membrane of muscle cells when they get damaged. Without enough working dysferlin, muscle cells break down faster than they can be repaired, leading to progressive muscle weakness and wasting. The disease mainly affects the muscles around the hips, thighs, and shoulders — the 'limb-girdle' muscles. Most people first notice we
How is Dysferlin-related limb-girdle muscular dystrophy R2 inherited?
Dysferlin-related limb-girdle muscular dystrophy R2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dysferlin-related limb-girdle muscular dystrophy R2 typically begin?
Typical onset of Dysferlin-related limb-girdle muscular dystrophy R2 is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Dysferlin-related limb-girdle muscular dystrophy R2?
Yes — 1 recruiting clinical trial is currently listed for Dysferlin-related limb-girdle muscular dystrophy R2 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Dysferlin-related limb-girdle muscular dystrophy R2?
2 specialists and care centers treating Dysferlin-related limb-girdle muscular dystrophy R2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.