Overview
Laminopathy with peripheral neuropathy is an extremely rare genetic disorder caused by mutations in genes that produce lamin proteins, which are essential building blocks of the structure surrounding the cell nucleus (called the nuclear envelope). Lamins help maintain the shape and function of cells throughout the body. When these proteins do not work properly, multiple tissues can be affected. In this particular form of laminopathy, the hallmark feature is peripheral neuropathy — damage to the nerves that carry signals between the brain, spinal cord, and the rest of the body. This can lead to numbness, tingling, pain, and weakness, especially in the hands and feet. Patients may also experience muscle wasting and difficulty with movement over time. Some individuals may have additional features seen in other laminopathies, such as mild muscle weakness in the limbs or subtle changes in fat distribution. Because this condition is so rare, treatment is mainly supportive and focused on managing symptoms. There is no cure at this time. Physical therapy, pain management, and assistive devices may help maintain function and quality of life. Ongoing research into laminopathies may eventually lead to more targeted treatments.
Key symptoms:
Numbness or tingling in hands and feetMuscle weakness, especially in the arms and legsMuscle wasting over timePain in the extremitiesDifficulty walking or balance problemsReduced reflexesLoss of sensation in the feet or handsFatigueDifficulty with fine motor tasks like buttoning clothesFoot drop or abnormal gait
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Laminopathy with peripheral neuropathy.
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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 Laminopathy with peripheral neuropathy.
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific LMNA mutation do I have, and what does it mean for my health?,How quickly might my symptoms progress over time?,Do I need regular heart monitoring, and how often?,What therapies or medications can help manage my nerve pain and weakness?,Are there any clinical trials or research studies I could participate in?,Should my family members be tested for this genetic change?,What specialists should I see regularly, and how often?
Common questions about Laminopathy with peripheral neuropathy
What is Laminopathy with peripheral neuropathy?
Laminopathy with peripheral neuropathy is an extremely rare genetic disorder caused by mutations in genes that produce lamin proteins, which are essential building blocks of the structure surrounding the cell nucleus (called the nuclear envelope). Lamins help maintain the shape and function of cells throughout the body. When these proteins do not work properly, multiple tissues can be affected. In this particular form of laminopathy, the hallmark feature is peripheral neuropathy — damage to the nerves that carry signals between the brain, spinal cord, and the rest of the body. This can lead t
How is Laminopathy with peripheral neuropathy inherited?
Laminopathy with peripheral neuropathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Laminopathy with peripheral neuropathy?
1 specialists and care centers treating Laminopathy with peripheral neuropathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.