Overview
LIMS2-related myopathy is an extremely rare inherited muscle disease caused by changes (mutations) in the LIMS2 gene. The term 'OBSOLETE' in the disease name means that this entry has been retired or reclassified in medical databases, but the condition itself is still recognized. The LIMS2 gene provides instructions for making a protein called PINCH2, which plays an important role in connecting muscle cells to the surrounding tissue and helping muscles function properly. When this gene does not work correctly, the muscles become weak and may waste away over time. Patients with this condition typically experience progressive muscle weakness, which can affect the ability to walk, climb stairs, and perform everyday tasks. The severity can vary, but the disease generally leads to increasing difficulty with movement. Some patients may also develop problems with their heart muscle or breathing muscles over time. Because this is such a rare condition, there is currently no specific cure or targeted treatment. Management focuses on supportive care, including physical therapy to maintain muscle strength and flexibility, respiratory support if breathing muscles are affected, and regular monitoring by a team of specialists. Research into this condition is still in its early stages, and understanding of the full clinical picture continues to evolve.
Key symptoms:
Progressive muscle weaknessDifficulty walking or climbing stairsMuscle wastingFatigue during physical activityDifficulty lifting arms above the headTrouble getting up from a seated or lying positionPossible breathing difficultiesPossible heart muscle involvementJoint stiffness or contracturesDelayed motor milestones in children
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 OBSOLETE: LIMS2-related myopathy.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: LIMS2-related myopathy.
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 OBSOLETE: LIMS2-related myopathy.
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 severe is the muscle involvement at this point, and what is the expected rate of progression?,Should my heart and lungs be monitored regularly, and how often?,What types of physical therapy or exercise are safe and beneficial?,Are there any clinical trials or research studies I could participate in?,Should other family members be tested for the LIMS2 gene mutation?,What assistive devices or home modifications might help as the disease progresses?,Are there any medications I should avoid that could worsen muscle weakness?
Common questions about OBSOLETE: LIMS2-related myopathy
What is OBSOLETE: LIMS2-related myopathy?
LIMS2-related myopathy is an extremely rare inherited muscle disease caused by changes (mutations) in the LIMS2 gene. The term 'OBSOLETE' in the disease name means that this entry has been retired or reclassified in medical databases, but the condition itself is still recognized. The LIMS2 gene provides instructions for making a protein called PINCH2, which plays an important role in connecting muscle cells to the surrounding tissue and helping muscles function properly. When this gene does not work correctly, the muscles become weak and may waste away over time. Patients with this condition
How is OBSOLETE: LIMS2-related myopathy inherited?
OBSOLETE: LIMS2-related myopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.