Overview
Laminopathy with striated muscle involvement is a group of rare genetic disorders caused by changes (mutations) in genes that produce proteins called lamins, most commonly the LMNA gene. Lamins are structural proteins found in the inner lining of the cell nucleus, and they play a key role in keeping cells healthy and functioning properly. When these proteins are abnormal, the muscles that have a striped pattern under the microscope — called striated muscles — are particularly affected. This includes both skeletal muscles (the muscles you use to move) and cardiac muscle (the heart muscle). People with this condition may experience progressive muscle weakness, difficulty walking, joint stiffness (contractures), and heart problems such as abnormal heart rhythms (arrhythmias) or weakening of the heart muscle (dilated cardiomyopathy). The severity can vary widely, even among family members who carry the same genetic change. Some individuals develop symptoms in childhood, while others may not notice problems until adulthood. This umbrella term covers several overlapping conditions, including Emery-Dreifuss muscular dystrophy, LMNA-related limb-girdle muscular dystrophy type 1B, and LMNA-related dilated cardiomyopathy with muscular dystrophy features. Treatment is currently focused on managing symptoms. Heart monitoring is essential because cardiac complications can be life-threatening. Physical therapy, orthopedic interventions, and cardiac devices such as pacemakers or implantable defibrillators may be needed. There is currently no cure, but ongoing research is exploring potential disease-modifying therapies.
Key symptoms:
Progressive muscle weaknessDifficulty walking or climbing stairsJoint stiffness or contractures, especially at the elbows, ankles, and neckAbnormal heart rhythms (arrhythmias)Weakening of the heart muscle (dilated cardiomyopathy)Fatigue and reduced staminaWasting of muscles in the arms and legsDifficulty raising arms above the headToe walkingSpine stiffness or rigid spineShortness of breathFainting or near-fainting episodesHeart palpitationsDifficulty with fine motor tasks
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventInstitut National de la Santé Et de la Recherche Médicale, France — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableMEKINIST
MEKINIST is indicated, in combination with dabrafenib, for the adjuvant treatment of patients with melanoma with BRAF V600E or V600K mutations, as detected by an FDA-approved test, and involvement of …
MEKINIST is indicated, in combination with dabrafenib, for the adjuvant treatment of patients with melanoma with BRAF V600E or V600K mutations, as detected by an FDA-approved test, and involvement of lymph node(s), following complete resection.
Specialists
View all specialists →No specialists are currently listed for Laminopathy with striated muscle involvement.
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
Financial Resources
2 resourcesTAFINLAR
Novartis Pharmaceuticals Corp.
TAFINLAR Patient Support (Novartis Patient Assistance)
Travel Grants
No travel grants are currently matched to Laminopathy with striated muscle involvement.
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 specific genetic mutation do I have, and what does it mean for my prognosis?,How often should I have my heart checked, and what tests will be done?,Do I need a pacemaker or defibrillator now, or should we plan for one in the future?,What physical activities are safe for me, and what should I avoid?,Should my family members be tested for this genetic change?,Are there any clinical trials or research studies I could participate in?,What signs or symptoms should prompt me to go to the emergency room?
Common questions about Laminopathy with striated muscle involvement
What is Laminopathy with striated muscle involvement?
Laminopathy with striated muscle involvement is a group of rare genetic disorders caused by changes (mutations) in genes that produce proteins called lamins, most commonly the LMNA gene. Lamins are structural proteins found in the inner lining of the cell nucleus, and they play a key role in keeping cells healthy and functioning properly. When these proteins are abnormal, the muscles that have a striped pattern under the microscope — called striated muscles — are particularly affected. This includes both skeletal muscles (the muscles you use to move) and cardiac muscle (the heart muscle). Peo
Are there clinical trials for Laminopathy with striated muscle involvement?
Yes — 1 recruiting clinical trial is currently listed for Laminopathy with striated muscle involvement on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
What treatment and support options exist for Laminopathy with striated muscle involvement?
1 patient support program are currently tracked on UniteRare for Laminopathy with striated muscle involvement. See the treatments and support programs sections for copay assistance, eligibility, and contact details.