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IBMPFD

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

(often shortened to IBMPFD)
Reviewed December 2008

What is IBMPFD?

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.

The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulders, making it difficult to climb stairs and raise the arms above the shoulders. As the disorder progresses, weakness develops in other muscles in the arms and legs. Muscle weakness can also affect respiratory and heart (cardiac) muscles, leading to life-threatening breathing difficulties and heart failure.

About half of all adults with IBMPFD develop a disorder called Paget disease of bone. This disorder most often affects bones of the hips, spine, and skull, and the long bones of the arms and legs. Bone pain, particularly in the hips and spine, is usually the major symptom of Paget disease. Rarely, this condition can weaken bones so much that they break (fracture).

In about one-third of people with IBMPFD, the disorder also affects the brain. IBMPFD is associated with a brain condition called frontotemporal dementia, which becomes noticeable in a person's forties or fifties. Frontotemporal dementia progressively damages parts of the brain that control reasoning, personality, social skills, speech, and language. People with this condition initially may have trouble speaking, remembering words and names (dysnomia), and using numbers (dyscalculia). Personality changes, a loss of judgment, and inappropriate social behavior are also hallmarks of the disease. As the dementia worsens, affected people ultimately become unable to speak, read, or care for themselves.

People with IBMPFD usually live into their fifties or sixties.

Read more about Paget disease of bone.

How common is IBMPFD?

Although the prevalence of IBMPFD is unknown, this condition is rare. It has been identified in about 26 families.

What genes are related to IBMPFD?

Mutations in the VCP gene cause IBMPFD. The VCP gene provides instructions for making an enzyme called valosin-containing protein, which has a wide variety of functions within cells. One of its most critical jobs is to help break down (degrade) proteins that are abnormal or no longer needed.

Mutations in the VCP gene alter the structure of valosin-containing protein, disrupting its ability to break down other proteins. As a result, excess and abnormal proteins may build up in muscle, bone, and brain cells. The proteins form clumps that interfere with the normal functions of these cells. It remains unclear how damage to muscle, bone, and brain cells leads to the specific features of IBMPFD.

Read more about the VCP gene.

How do people inherit IBMPFD?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of IBMPFD?

These resources address the diagnosis or management of IBMPFD and may include treatment providers.

You might also find information on the diagnosis or management of IBMPFD in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about IBMPFD?

You may find the following resources about IBMPFD helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for IBMPFD?

  • Inclusion body myopathy with early-onset Paget disease of bone and/or frontotemporal dementia
  • Inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia
  • Lower motor neuron degeneration with Paget-like bone disease
  • Muscular dystrophy, limb-girdle, with Paget disease of bone
  • Pagetoid amyotrophic lateral sclerosis
  • Pagetoid neuroskeletal syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about IBMPFD?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding IBMPFD?

autosomal ; autosomal dominant ; cardiac ; cell ; degrade ; dementia ; enzyme ; gene ; heart failure ; inclusion body ; motor ; motor neuron ; muscular dystrophy ; mutation ; neuron ; prevalence ; protein ; respiratory ; sclerosis ; symptom ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: December 2008
Published: April 17, 2014