Overview
Adult-onset distal myopathy due to VCP mutation is a rare inherited muscle disease that primarily affects the muscles farthest from the center of the body, such as those in the hands, forearms, lower legs, and feet. It is caused by changes (mutations) in the VCP gene, which provides instructions for making a protein called valosin-containing protein. This protein plays an important role in many cell functions, including breaking down damaged or unneeded proteins. When the VCP gene is mutated, abnormal protein buildup can damage muscle cells over time. Symptoms typically begin in adulthood, often between the ages of 30 and 60. People usually first notice weakness in the hands or feet, which can make it harder to grip objects, button shirts, or walk normally. The weakness tends to slowly get worse over the years and may eventually spread to muscles closer to the trunk. Some individuals with VCP mutations can also develop other problems, including Paget disease of bone (a condition causing abnormal bone breakdown and regrowth) and a type of dementia called frontotemporal dementia. This combination is sometimes referred to as multisystem proteinopathy or inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD). There is currently no cure for this condition. Treatment focuses on managing symptoms, maintaining function, and improving quality of life. Physical therapy, occupational therapy, and assistive devices can help people stay as independent as possible. Research into targeted therapies is ongoing but no disease-modifying treatments are yet approved.
Key symptoms:
Weakness in the hands and fingersWeakness in the feet and lower legsDifficulty gripping or holding objectsFoot drop or tripping while walkingMuscle wasting in the arms and legsDifficulty climbing stairsBone pain from Paget disease of boneMemory problems or personality changes (frontotemporal dementia)Difficulty with fine motor tasks like buttoning clothesFatigue and reduced enduranceMuscle crampsProgressive loss of mobilityBreathing difficulties in advanced stages
Clinical phenotype terms (30)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
2 availableMEKINIST and TAFINLAR
MEKINIST (trametinib) in combination with dabrafenib for treatment of patients with unresectable or metastatic melanoma with BRAF V600E or V600K mutations as detected by an FDA-approved test
MEKINIST
indicated as a single agent for the treatment of BRAF-inhibitor treatment-naïve patients with unresectable or metastatic melanoma with BRAF V600E or V600K mutations as detected by an FDA-approved test
Clinical Trials
View all trials with filters →No actively recruiting trials found for Adult-onset distal myopathy due to VCP mutation at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Adult-onset distal myopathy due to VCP mutation.
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
3 resourcesTAFINLAR
Novartis Pharmaceuticals Corp.
TAFINLAR Patient Support (Novartis Patient Assistance)
Travel Grants
No travel grants are currently matched to Adult-onset distal myopathy due to VCP mutation.
Community
No community posts yet. Be the first to share your experience with Adult-onset distal myopathy due to VCP mutation.
Start the conversation →Latest news about Adult-onset distal myopathy due to VCP mutation
No recent news articles for Adult-onset distal myopathy due to VCP mutation.
Follow this condition to be notified when news becomes available.
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 quickly is this disease likely to progress in my case?,Should I be screened for Paget disease of bone or frontotemporal dementia?,What types of physical therapy or exercise are safe and beneficial for me?,Should my family members be tested for the VCP mutation?,Are there any clinical trials I might be eligible for?,How often should I have follow-up appointments and what tests should be done regularly?,What assistive devices or home modifications might help me stay independent longer?
Common questions about Adult-onset distal myopathy due to VCP mutation
What is Adult-onset distal myopathy due to VCP mutation?
Adult-onset distal myopathy due to VCP mutation is a rare inherited muscle disease that primarily affects the muscles farthest from the center of the body, such as those in the hands, forearms, lower legs, and feet. It is caused by changes (mutations) in the VCP gene, which provides instructions for making a protein called valosin-containing protein. This protein plays an important role in many cell functions, including breaking down damaged or unneeded proteins. When the VCP gene is mutated, abnormal protein buildup can damage muscle cells over time. Symptoms typically begin in adulthood, of
How is Adult-onset distal myopathy due to VCP mutation inherited?
Adult-onset distal myopathy due to VCP mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Adult-onset distal myopathy due to VCP mutation typically begin?
Typical onset of Adult-onset distal myopathy due to VCP mutation is adult. Age of onset can vary across affected individuals.
What treatment and support options exist for Adult-onset distal myopathy due to VCP mutation?
2 patient support programs are currently tracked on UniteRare for Adult-onset distal myopathy due to VCP mutation. See the treatments and support programs sections for copay assistance, eligibility, and contact details.