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

Title

Other Names:

IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Limb-girdle muscular dystrophy with Paget disease of bone; IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis; Pagetoid neuroskeletal syndrome See More

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 52430

Disease definition

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

Visit the Orphanet disease page for more resources.

Last updated: 9/29/2015

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Facial palsy	Occasional (present in 5%-29% of cases)
Abnormality of pelvic girdle bone morphology	-
Amyotrophic lateral sclerosis	-
Autosomal dominant inheritance	-
Back pain	-
Difficulty climbing stairs	-
Distal amyotrophy	-
Dysphasia	-
Dystonia	-
Elevated alkaline phosphatase of bone origin	-
Elevated serum creatine phosphokinase	-
Frontal cortical atrophy	-
Frontotemporal dementia	-
Gait disturbance	-
Limb muscle weakness	-
Lumbar hyperlordosis	-
Myopathy	-
Pelvic girdle amyotrophy	-
Pelvic girdle muscle atrophy	-
Pelvic girdle muscle weakness	-
Proximal muscle weakness	-
Rimmed vacuoles	-
Scapular winging	-
Shoulder girdle muscle atrophy	-
Shoulder girdle muscle weakness	-
Temporal cortical atrophy	-

Last updated: 9/1/2017

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Frontotemporal Lobar Degeneration Association (FTLDA)
21019 U.S.Hwy. 281
Suite 830-27
San Antonio, TX 78258
Telephone: 210-824-9510
E-mail: oxford@ftlda.org
Website: http://www.ftlda.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. This website is maintained by the National Library of Medicine.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. Click on the link to view a sample search on this topic.

News & Events News & Events

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