Overview
TOR1AIP1-related limb-girdle muscular dystrophy (also sometimes called LGMD R23 or TOR1AIP1-related myopathy) is a rare inherited muscle disease caused by changes in the TOR1AIP1 gene. This gene provides instructions for making a protein called LAP1, which sits in the membrane surrounding the cell's nucleus and helps keep muscles working properly. When this protein does not function correctly, muscle cells gradually weaken and break down over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, shoulders, and upper arms. This pattern of weakness is called 'limb-girdle' because it involves the girdle-like ring of muscles around the hips and shoulders. Over time, people may also develop heart muscle problems (cardiomyopathy) and, in some cases, stiffness of the joints (contractures). Some individuals experience breathing difficulties as the respiratory muscles become involved. Currently, there is no cure for TOR1AIP1-related limb-girdle muscular dystrophy. Treatment focuses on managing symptoms, maintaining mobility, protecting heart and lung function, and improving quality of life. A team of specialists including neurologists, cardiologists, and physical therapists typically work together to support affected individuals.
Also known as:
Key symptoms:
Weakness in the hip and shoulder musclesDifficulty climbing stairs or rising from a chairTrouble lifting arms above the headWaddling or unusual walking patternMuscle wasting (loss of muscle bulk)Heart muscle weakness (cardiomyopathy)Irregular heartbeat (arrhythmia)Shortness of breath, especially during activityJoint stiffness or contracturesFatigue with everyday activitiesElevated muscle enzyme levels in blood (CK)
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 TOR1AIP1-related limb-girdle muscular dystrophy.
View clinical trials →Clinical Trials
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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 TOR1AIP1-related limb-girdle muscular dystrophy.
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Start the conversation →Latest news about TOR1AIP1-related limb-girdle muscular dystrophy
2 articlesCaregiver Resources
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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 advanced is my muscle weakness right now, and what changes should I watch for over time?,Do I need heart monitoring, and how often should I have cardiac tests?,Should I have breathing tests, and at what point might I need breathing support?,Are there any clinical trials or research studies I might be eligible for?,What physical activities are safe for me, and are there any I should avoid?,Should my family members be tested for the same gene changes?,What support services — such as physical therapy, home care, or disability benefits — are available to me?
Common questions about TOR1AIP1-related limb-girdle muscular dystrophy
What is TOR1AIP1-related limb-girdle muscular dystrophy?
TOR1AIP1-related limb-girdle muscular dystrophy (also sometimes called LGMD R23 or TOR1AIP1-related myopathy) is a rare inherited muscle disease caused by changes in the TOR1AIP1 gene. This gene provides instructions for making a protein called LAP1, which sits in the membrane surrounding the cell's nucleus and helps keep muscles working properly. When this protein does not function correctly, muscle cells gradually weaken and break down over time. The disease mainly affects the muscles closest to the center of the body — the hips, thighs, shoulders, and upper arms. This pattern of weakness i
How is TOR1AIP1-related limb-girdle muscular dystrophy inherited?
TOR1AIP1-related limb-girdle muscular dystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat TOR1AIP1-related limb-girdle muscular dystrophy?
1 specialists and care centers treating TOR1AIP1-related limb-girdle muscular dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.