IBMPFD                 

    Inclusion Body Myopathy associated with

Paget's disease of bone and Frontotemporal Dementia

   Click on the Subject (in Blue) to Link to these Items:

  Survey Forms: Please use the linked survey form page to provide research information.  One form for symptoms description has an embedded link to e-mail to Drs. Kimonis and Weihl.  Another form for Quality of Life has an embedded link to Dr. Kimonis.  Either form may be printed and mailed.

  Research Projects: Active research projects needing participants. 

  References:  Embedded articles and links to sites to provide information about DNA in general and this specific mutation. Educational materials for patients, clinicians, and geneticists can be found at Dr. Virginia Kimonis web site at UCI.

  Links:  To the MDA and other research institutions that have information that may help, as well as some specifics on Paget's Disease of the Bone. Also, where you can participate by using spare computer time for research.

  Approved Treatments:  There are approved treatments for Paget's Disease of the bone, although none yet for the myopathy and dementia. There are treatments for a number of the secondary effects from IBMPFD, including blood pressure, heart disease, swelling.

  For Caregivers:   Information to assist caregivers handling the needs of affected persons as well as support for caregiver issues.

  Nutrition:  A list of substances that have helped me may help others.  Dose and frequency will vary by individual, so one should consult a variety of sources and check one's own progress when taking.

  Exercise:  Some ideas about what kinds of exercise may help. Regular stretching, especially in a solar heated Water Therapy Pool, is very important, not just for the muscles, but also tendons and ligaments.

  Equipment:  Some ideas on types of equipment that may help and links to sources of the equipment.  Tools and aids make the performance of tasks easier and allows one to continue doing many of the things one either needs or likes to do, with much less pain and effort.

  Glossary: Some terms and definitions that are pertinent to neuro-muscular diseases.  This page is from MDA Quest magazine.  Also see the  Full Glossary (from NIH) for a complete list of gene related terms and definitions.

  Newsletter:  Electronic copies of the printed newsletters provided by Dr. Kimonis. Dr. Benatar's familial-ALS research newsletter is available at www.als-research.org. Note, familial-ALS is sometimes associated with mutations in the VCP gene.

  Genetic Testing:  Links to a source for genetic testing for mutations in the VCP.  CETT through UCI provides more information about symptoms and how to obtain DNA testing for the various mutation locations.

For comments, suggestions, or questions, please e-mail david@ibmpfd.com.

  IBMPFD:  Inclusion Body Myopathy associated with Paget's disease of bone (PDB) and Frontotemporal Dementia (FD) is an autosomal dominant mutation in chromosome 9 of the VCP  (Valosin Containing Protein) gene. Given the interaction with other genetic diseases (e.g., fALS), this mutation may also be known as VCP Disease or Disorder.

  IBMPFD is adult onset with degradation of the skeletal muscle system and sometimes a bone disorder and/or onset of a dementia similar in symptoms to Alzheimer's.  There are no known cures; there are no known treatments for the myopathy or FD; there is an approved treatment for PDB. Some therapies may mitigate some symptoms and delay the inevitable degeneration associated with the myopathy and FD. 

  This web site offers an opportunity for those of us with the mutation and associated caregivers and researchers to exchange information and experiences on how to actively try to help ourselves live a productive life. The idea of this web site is to exchange information or experiences that can help ourselves and future generations.

  Below is a drawing of the DNA section of the VCP gene containing different mutation locations that cause IBMPFD.  Small, short lengths in red highlight "hot spots" for the most  probable mutation locations.