Overview
FKRP-related limb-girdle muscular dystrophy R9 (also called LGMD R9, LGMD2I, or MDC1C in its most severe form) is a genetic muscle disease caused by changes in the FKRP gene. This gene provides instructions for making a protein called fukutin-related protein, which helps keep muscle fibers strong and intact. When this protein does not work properly, muscles gradually weaken and break down over time. The disease mainly affects the muscles around the hips, thighs, and shoulders — the so-called 'limb-girdle' muscles. People with LGMD R9 often notice difficulty climbing stairs, getting up from the floor, lifting their arms, or keeping up with physical activity. Weakness tends to get worse slowly over many years. Some people also develop heart problems (cardiomyopathy) or breathing difficulties, which need careful monitoring. A small number of people, especially those with more severe mutations, may have features that overlap with a condition called congenital muscular dystrophy (MDC1C). There is currently no cure for LGMD R9. Treatment focuses on managing symptoms, keeping muscles as strong as possible through physical therapy, and watching for heart and lung complications. Research into gene therapy and other targeted treatments is actively ongoing, giving the community real hope for the future.
Also known as:
Key symptoms:
Weakness in the hip and thigh muscles, making it hard to climb stairs or rise from a chairWeakness in the shoulder and upper arm muscles, making lifting difficultWaddling or unusual walking pattern (gait)Difficulty running or keeping up with peersEnlarged calf muscles (calf pseudohypertrophy)Fatigue with everyday physical activityMuscle cramps or achingGradual loss of the ability to walk in some peopleHeart muscle weakness (cardiomyopathy) in some casesShortness of breath, especially during exercise or when lying flatCurvature of the spine (scoliosis) in some individualsRaised blood levels of creatine kinase (a marker of muscle damage)
Clinical phenotype terms (17)— 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
FDA & Trial Timeline
2 eventsML Bio Solutions, Inc. — PHASE3
ML Bio Solutions, Inc. — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for FKRP-related limb-girdle muscular dystrophy R9.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 FKRP-related limb-girdle muscular dystrophy R9.
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.Which specific FKRP mutations do I have, and what do they mean for how my disease might progress?,How often should I have my heart and lungs checked, and what warning signs should bring me to the emergency room?,What type of exercise or physical therapy is safe and beneficial for me right now?,Are there any clinical trials for LGMD R9 that I might be eligible to join?,Should my siblings or parents be tested for the FKRP gene change?,What assistive devices or home modifications should I consider now or plan for in the future?,Are there any medications or supplements I should avoid because they could harm my muscles?
Common questions about FKRP-related limb-girdle muscular dystrophy R9
What is FKRP-related limb-girdle muscular dystrophy R9?
FKRP-related limb-girdle muscular dystrophy R9 (also called LGMD R9, LGMD2I, or MDC1C in its most severe form) is a genetic muscle disease caused by changes in the FKRP gene. This gene provides instructions for making a protein called fukutin-related protein, which helps keep muscle fibers strong and intact. When this protein does not work properly, muscles gradually weaken and break down over time. The disease mainly affects the muscles around the hips, thighs, and shoulders — the so-called 'limb-girdle' muscles. People with LGMD R9 often notice difficulty climbing stairs, getting up from th
How is FKRP-related limb-girdle muscular dystrophy R9 inherited?
FKRP-related limb-girdle muscular dystrophy R9 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for FKRP-related limb-girdle muscular dystrophy R9?
Yes — 2 recruiting clinical trials are currently listed for FKRP-related limb-girdle muscular dystrophy R9 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat FKRP-related limb-girdle muscular dystrophy R9?
8 specialists and care centers treating FKRP-related limb-girdle muscular dystrophy R9 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.