- IBMPFD (OMIM#167320) is an inherited multisystem disease that affects muscle, bone and the central nervous system. Patients with this condition can present with a variety of manifestations, including:
- Inclusion body myopathy (affecting up to 90% of affected patients)
- Paget’s Disease of the bone (affecting up to 50% of affected patients)
- Frontotemporal dementia (affecting up to 30% of affected patients)
- Amyotrophic lateral sclerosis (Lou Gehrig’s disease; the incidence of this manifestation is unknown)
- All known cases of IBMPFD have been inherited as an autosomal dominant trait. As an autosomal dominant disease, an individual only needs to inherit one copy of the gene to be affected. This results in a 50% chance of passing the gene to children. Most cases of IBMPFD are caused by mutations in the VCP gene. However, there are at least 2 additional genes that when mutated cause IBMPFD.
- IBMPFD is an adult onset disease. The disease starts insidiously and progresses slowly. While the age of onset can vary, most patients are in their 30’s or 40’s when they initially present to their physicians.
- There is no cure or disease-altering therapy for IBMPFD, but Paget’s disease and its symptoms can be treated with bisphosphonates.
Patients and their families are welcome, and encouraged, to contact one of the physicians on our Medical Advisory Team page.
For a better understanding of the devastating human toll this disease causes, please read Jerry Mitchell’s 10 chapter story on how his family has been impacted for generations in our “In The News“section.