Overview
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, often called IBMPFD, is a rare inherited condition that can affect muscles, bones, and the brain. It is also sometimes called multisystem proteinopathy 1 (MSP1). The disease is caused by changes in a gene called VCP, which helps cells break down and recycle damaged proteins. When this process does not work properly, abnormal protein clumps build up inside cells and cause damage over time. The three main parts of the body affected are the skeletal muscles, the bones, and the front part of the brain. Muscle weakness usually starts in the hips and shoulders and slowly gets worse, making it harder to walk, climb stairs, or lift objects. Paget disease of bone causes bones to grow in an abnormal way, which can lead to pain, fractures, and deformity. Frontotemporal dementia affects personality, behavior, language, and decision-making, and it tends to appear later in the disease course. Not everyone with IBMPFD develops all three features. Some people mainly have muscle problems, while others develop bone or brain symptoms too. There is currently no cure, but treatments can help manage symptoms and improve quality of life. Physical therapy, medications for bone disease, and supportive care for dementia are the main approaches used today.
Also known as:
Key symptoms:
Progressive muscle weakness, especially in the hips, thighs, and shouldersDifficulty walking, climbing stairs, or rising from a chairMuscle wasting (muscles getting smaller over time)Bone pain, especially in the spine, pelvis, or legsBones that break more easily than normalEnlarged or deformed bonesChanges in personality or behaviorDifficulty finding words or speaking clearlyMemory problems and confusionDifficulty making decisions or planning tasksBreathing problems if breathing muscles are affectedHeart muscle problems (cardiomyopathy) in some peopleDrooping eyelids or weakness in facial muscles in some cases
Clinical phenotype terms (43)— 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)
FDA & Trial Timeline
3 eventsQalsody: FDA approved
treatment of amyotrophic lateral sclerosis (ALS) in adults who have a mutation in the superoxide dismutase 1 (SOD1) gene
Rilutek: FDA approved
Treatment of patients with amyotrophic lateral sclerosis. Riluzole extends survival and/or time to tracheostomy.
Metrodin: FDA approved
For induction of ovulation in patients with polycystic ovarian disease who have an elevated LH/FSH ratio and who have failed to respond to adequate clomiphene citrate therapy.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Inclusion body myopathy with Paget disease of bone and frontotemporal dementia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Inclusion body myopathy with Paget disease of bone and frontotemporal dementia at this time.
New trials open frequently. Follow this disease to get notified.
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 resourcesQalsody
Biogen Inc.
Qalsody Patient Support (Biogen Patient Services)
Rilutek
Rhone-Poulenc Rorer Pharmaceuticals, Inc.
Metrodin
EMD Serono, Inc.
Travel Grants
No travel grants are currently matched to Inclusion body myopathy with Paget disease of bone and frontotemporal dementia.
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.Which of the three features — muscle, bone, or brain — am I most at risk for, and how will you monitor each one?,Should my family members be tested for the VCP gene change, and at what age should they start?,What physical therapy or exercise program is safe and helpful for my type of muscle weakness?,Are there any clinical trials for IBMPFD that I might be eligible for?,When should I start thinking about respiratory monitoring, and what signs should prompt me to seek urgent care?,What medications are available for the bone disease, and how often will I need bone scans?,What resources or support services are available for me and my family as the disease progresses?
Common questions about Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
What is Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, often called IBMPFD, is a rare inherited condition that can affect muscles, bones, and the brain. It is also sometimes called multisystem proteinopathy 1 (MSP1). The disease is caused by changes in a gene called VCP, which helps cells break down and recycle damaged proteins. When this process does not work properly, abnormal protein clumps build up inside cells and cause damage over time. The three main parts of the body affected are the skeletal muscles, the bones, and the front part of the brain. Muscle weakness
How is Inclusion body myopathy with Paget disease of bone and frontotemporal dementia inherited?
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Inclusion body myopathy with Paget disease of bone and frontotemporal dementia typically begin?
Typical onset of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia is adult. Age of onset can vary across affected individuals.
Which specialists treat Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?
1 specialists and care centers treating Inclusion body myopathy with Paget disease of bone and frontotemporal dementia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?
3 patient support programs are currently tracked on UniteRare for Inclusion body myopathy with Paget disease of bone and frontotemporal dementia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.