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Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia (IBMPFD) is a rare genetic condition caused by variants in the VCP gene. This condition is inherited in an autosomal dominant pattern, which means that a person with one affected parent has a 50% chance of inheriting the condition. IBMPFD is characterized by progressive muscle weakness (myopathy), early-onset Paget disease of the bone, and frontotemporal dementia.

Paget disease of the bone is a condition that affects the way bones break down and rebuild. In people with IBMPFD, Paget disease often starts at a younger age than usual. Frontotemporal dementia is a progressive brain disorder that affects a person’s personality, behavior, and language abilities. In people with IBMPFD, frontotemporal dementia typically develops in mid-adulthood.

IBMPFD is one of several VCP-associated diseases. Other VCP-associated diseases include Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis (ALS), and hereditary spastic paraplegia. These conditions have overlapping signs and symptoms, and researchers are still learning about the relationship between them.

Research on IBMPFD and other VCP-associated diseases is ongoing. Scientists are working to learn more about the underlying genetic causes of these conditions and to develop better diagnostic testing. Clinical trials are also underway to investigate potential treatments for IBMPFD and other VCP-associated diseases. You can find more information about these studies on clinicaltrials.gov.

Frequency

The frequency of inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is unknown, as it is a rare disease. This condition is caused by autosomal dominant inheritance of variants in the VCP gene.

IBMPFD is a genetic disorder that affects the bones, muscles, and brain. The disease is characterized by early-onset Paget disease, which causes abnormal bone growth, and frontotemporal dementia, which affects a person’s cognitive and behavioral functions.

Americans see their primary care doctors less often than they did a decade ago. Adults under 65 made nearly 25% fewer visits to primary care providers in 2016 than they did in 2018, according to National Public Radio. In the same time period, the number of adults who went at least a year without visiting a primary care provider increased from 38% to 46%.

According to research studies, the exact frequency of IBMPFD is not known. However, it is considered a rare condition, affecting a small number of individuals worldwide.

For more information about IBMPFD, the patient can refer to scientific articles, research studies, and resources such as the National Center for Advancing Translational Sciences (NCATS) and clinicaltrials.gov. These sources may provide additional information about this rare condition, including its causes, symptoms, and potential treatment options.

In conclusion, the frequency of IBMPFD is currently unknown, but it is considered a rare disease. Further research and studies are needed to understand why this disease occurs and to develop better care and support for patients affected by this condition.

Causes

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a rare autosomal dominant disease that is caused by mutations in the valosin-containing protein (VCP) gene. The VCP gene provides instructions for making a protein called valosin-containing protein, which is involved in various cellular functions.

VCP-associated IBMPFD is characterized by the presence of abnormal inclusion bodies in the muscle tissue, early-onset Paget disease of the bone, and frontotemporal dementia. Paget disease is a disorder that affects the bones, causing them to become fragile and misshapen. Frontotemporal dementia is a neurological disorder that affects the frontal and temporal lobes of the brain, leading to changes in personality and behavior.

The exact mechanism by which VCP mutations cause IBMPFD is still unknown, but research suggests that the mutations lead to the accumulation of abnormal proteins in the cells, leading to the development of inclusion bodies and resulting in muscle weakness and degeneration.

IBMPFD is a genetic disorder, which means that it can be passed down from parents to their children. In some cases, the disease may occur without any family history. Genetic testing can confirm the diagnosis of IBMPFD and identify the specific VCP gene mutations. However, it is important to note that genetic testing may not detect all variants of the VCP gene associated with IBMPFD.

References to more information about the causes of IBMPFD and related diseases can be found in scientific catalogs such as OMIM (Online Mendelian Inheritance in Man) and other research resources. ClinicalTrials.gov is also a useful resource for information on ongoing studies and clinical trials related to IBMPFD.

Learn more about the gene associated with Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a rare genetic disorder. The frequency of this condition is currently unknown, but it is considered to be a rare disease.

IBMPFD affects various parts of the body, including the muscles, bones, and brain. It is characterized by the presence of inclusion bodies in muscle cells, early-onset Paget disease of the bones, and frontotemporal dementia. Personality and behavior changes may also occur in affected individuals.

The VCP gene is associated with IBMPFD. Mutations in this gene can result in the development of the disease. The exact inheritance pattern of IBMPFD is autosomal dominant, which means that a mutation in one copy of the gene is sufficient to cause the condition.

Currently, there is no cure for IBMPFD. Treatment focuses on managing the symptoms and providing supportive care. This may involve physical therapy, medication, and other supportive measures.

If you or someone you know have been diagnosed with IBMPFD, it is important to seek support from healthcare professionals and connect with patient organizations and support groups. These resources can provide more information about the condition, available treatment options, and ongoing research efforts.

For more scientific information about IBMPFD, you may refer to references in scientific journals indexed in PubMed or consult the OMIM catalog, which is a comprehensive resource for genetic diseases.

It is worth noting that IBMPFD is a rare condition, and there may be limited clinical trial opportunities available. However, it is important to stay updated on any ongoing research studies or clinical trials through reputable sources like clinicaltrials.gov.

See also  Malignant hyperthermia

In conclusion, the gene associated with Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia is the VCP gene. This genetic mutation causes the development of the disease, which is characterized by muscle and bone abnormalities, as well as frontotemporal dementia. For more information about this rare condition, it is advisable to consult respected scientific resources and connect with patient support groups.

Inheritance

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is an autosomal dominant condition caused by mutations in the VCP gene. The VCP gene provides instructions for making a protein called valosin-containing protein (VCP), which plays a role in many cellular functions.

Mutations in the VCP gene lead to the production of an abnormal VCP protein, which disrupts the normal functioning of cells. This proteinopathy is associated with the development of IBMPFD, a rare genetic disorder characterized by inclusion body myopathy, early-onset Paget disease of the bone, and frontotemporal dementia.

The exact frequency of this condition is unknown, but it is considered a rare disease.

The inheritance pattern of IBMPFD is autosomal dominant, which means that an affected person has a 50% chance of passing the condition on to each of their children. In some cases, the disease can also occur without a family history, resulting from a new mutation in the VCP gene.

Genetic testing is available for the VCP gene to confirm a diagnosis of IBMPFD. However, additional testing may be required to rule out other diseases with similar symptoms.

Currently, there are no known cures for IBMPFD. Treatment mainly focuses on managing the symptoms and providing supportive care. Patients with frontotemporal dementia may require specialized care and support for personality and behavioral changes.

For more information about IBMPFD, its inheritance, and available resources, you can visit the Online Mendelian Inheritance in Man (OMIM) database or contact advocacy organizations for genetic diseases. Scientific articles and clinical studies can also provide additional information and references.

References:

  • OMIM: [OMIM link]
  • ClinicalTrials.gov: [ClinicalTrials.gov link]
  • [Name of Research Center]

Other Names for This Condition

  • Frontotemporal dementia with inclusion body myopathy and Paget disease of bone
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • IBMPFD
  • Myopathy, inclusion body, with early-onset Paget disease and frontotemporal dementia
  • Pagetoid amyotrophic lateral sclerosis
  • Valosin-containing protein-associated proteinopathy
  • VCP-associated inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
  • VCP-associated inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • VCP gene-related disorders
  • VCP myopathy, Paget disease of bone, and frontotemporal dementia
  • Welander distal myopathy, Paget disease of bone, and presenile dementia

These terms are used to describe a rare genetic condition that affects the brain, bones, and personality. In addition to these terms, there may be other names for this condition in scientific articles and research studies.

Frontotemporal dementia is a form of dementia that affects the front and sides of the brain, leading to changes in behavior and personality. Paget disease of bone is a condition that affects the bones, causing them to become weak and deformed. Inclusion body myopathy is a muscle disorder characterized by weakness and wasting of the muscles. This condition is often associated with mutations in the VCP gene, although the exact cause is unknown.

For more information about this condition, including genetic testing and care resources, you can visit the following websites:

It is important to note that this condition is rare, and more research is needed to fully understand the frequency, clinical features, and genes associated with this disease. If you or someone you know is affected by this condition, it is recommended to seek medical advice from a healthcare professional or genetic testing center for more information and support.

Additional Information Resources

For more information about Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia (IBMPFD), you can refer to the following resources:

  • Scientific Articles: PubMed is a reliable source for finding scientific articles and research studies related to IBMPFD. You can search for articles using keywords such as “IBMPFD”, “inclusion body myopathy”, “frontotemporal dementia”, and “Paget disease”.
  • Genetic Information: OMIM (Online Mendelian Inheritance in Man) provides detailed information about the genetic basis of different diseases, including IBMPFD. You can search for the gene names associated with this condition, such as VCP, and learn more about its inheritance patterns, clinical features, and frequency.
  • Support and Advocacy: There are several patient advocacy organizations that offer support and resources for individuals and families affected by IBMPFD. These organizations can provide information, connect you with others facing similar challenges, and offer guidance on managing the condition. Some notable organizations include the IBMPFD Foundation and the National Organization for Rare Disorders (NORD).
  • Genetic Testing: If you or a loved one have been diagnosed or suspect you might have IBMPFD, consider discussing genetic testing with a healthcare professional. Genetic testing can confirm the presence of VCP gene mutations associated with IBMPFD, providing a definitive diagnosis and guiding further management and care.

It is important to keep in mind that IBMPFD is a rare condition, and resources on this specific topic may be limited. However, by utilizing the aforementioned resources, you can gather additional information, find support, and stay updated on the latest research developments pertaining to this complex disorder.

Genetic Testing Information

If you have been diagnosed with Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia (IBMPFD), it may be important for you to undergo genetic testing. Genetic testing can help determine the specific gene mutations associated with this rare condition.

Why Genetic Testing?

  • Genetic testing can confirm a diagnosis of IBMPFD.
  • It can identify the specific gene mutations causing the condition.
  • Knowing your genetic status can help with family planning decisions.
  • Genetic testing can provide important information for researchers working towards better treatments and potential cures.

Genes Associated with IBMPFD

The IBMPFD is primarily caused by mutations in the valosin-containing protein (VCP) gene. Variants in this gene have been found to be responsible for not only IBMPFD but also other VCP-associated diseases such as Amyotrophic Lateral Sclerosis (ALS) and Parkinson’s Disease.

Genetic Testing Centers

Several genetic testing centers offer testing for IBMPFD and related conditions. These centers have specialized knowledge and expertise in genetic testing for rare diseases.

See also  Ring chromosome 20 syndrome

Additional Resources

If you are interested in participating in research studies or clinical trials related to IBMPFD, you can find more information on ClinicalTrials.gov and PubMed.

Scientific articles, advocacy groups, and patient support organizations can also provide valuable information and support. The Whyte Center for Inclusion Body Myopathy serves as a valuable resource for patients and their families.

For more information about IBMPFD and its genetic causes, you can refer to the publications and references available on PubMed and other scientific journals.

Remember, early-onset Paget disease, frontotemporal dementia, and inclusion body myopathy are rare conditions, and genetic testing can help in understanding their genetic basis.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) to support research and provide information about genetic and rare diseases. One such rare condition is Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia (IBMPFD).

IBMPFD is characterized by the presence of inclusion bodies in muscle tissue, early-onset Paget disease of the bones, and frontotemporal dementia affecting personality and social behavior. The condition is caused by variants in the VCP gene, which codes for a protein involved in various cellular functions.

As the name suggests, IBMPFD is a genetic condition with an autosomal dominant inheritance pattern. This means that a person with a variant in one copy of the VCP gene has a 50% chance of passing the condition on to each of their children.

Clinical features of IBMPFD can vary, with some individuals experiencing only one or two aspects of the condition. Others may have a more severe presentation, with all three components present. The frequency of IBMPFD in the general population is unknown.

Diagnosis of IBMPFD is typically based on clinical symptoms, family history, and genetic testing for variants in the VCP gene. Treatment options for IBMPFD are limited, and management focuses on symptom relief and supportive care.

The GARD website provides additional resources and information about IBMPFD, including articles, references, and links to clinical trials. The OMIM catalog also contains detailed information about the condition and VCP-associated proteinopathy.

References:

  1. Nalbandian A, Weihl CC. Inclusion body myopathy. 2020 Jun 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020–. PubMed PMID: 30020691
  2. Whyte MP, Greenberg CR, Fitzpatrick LA, et al. American Society for Bone and Mineral Research. 2019. American Society for Bone and Mineral Research-Orthopaedic Research Society Joint Task Force Report on Cell-Based Therapies for Orthopaedic Conditions.

Patient Support and Advocacy Resources

Rare diseases like Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia (IBMPFD) can be difficult to navigate and understand. If you or a loved one has been diagnosed with this condition, it is important to seek support and advocacy resources to help navigate the challenges.

Below is a list of patient support and advocacy resources that can provide information, support, and guidance for individuals and families affected by IBMPFD:

  • Inclusion Body Myopathy, Paget Disease, and Frontotemporal Dementia 1 (IBMPFD1) Genetic Testing: IBMPFD1 genetic testing is available on a research basis for individuals suspected to have IBMPFD or a family history of the condition. Testing can provide more information about the specific genetic variants known to cause IBMPFD and help guide clinical care and management. For more information on IBMPFD1 genetic testing, please refer to the OMIM database (Online Mendelian Inheritance in Man).
  • Patient Advocacy Organizations: There are several patient advocacy organizations that focus on rare diseases, including those associated with inclusion body myopathy and frontotemporal dementia. These organizations provide support, information, and resources for patients and their families. Some examples include the IBMPFD Foundation and the Association for Frontotemporal Degeneration (AFTD).
  • Clinical Trials and Research Studies: Participating in clinical trials and research studies can be an opportunity to contribute to scientific research on IBMPFD and related conditions. These studies can help advance our understanding of the disease and potentially lead to new treatments or interventions. For more information on ongoing studies and clinical trials, you can search the clinical trial database on PubMed.
  • Rare Disease Support Networks: Connecting with other individuals and families living with rare diseases can provide social support and an opportunity to learn from others’ experiences. There are online communities, social media groups, and support networks specifically dedicated to rare diseases, including IBMPFD and frontotemporal dementia. These networks can offer a sense of community and understanding that can be valuable for those affected by the condition.
  • Additional Resources and References: For more information on IBMPFD, frontotemporal dementia, and related diseases, there are scientific articles and references available. These resources can provide in-depth information on the condition, its genetic causes, clinical features, and management strategies. You can access additional information by searching PubMed or referring to scientific articles and reviews published in reputable journals.

Remember, you are not alone in navigating this rare condition. Seeking support and connecting with others who understand the challenges can make a significant difference in managing IBMPFD and frontotemporal dementia.

Research Studies from ClinicalTrials.gov

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a rare genetic disease that affects multiple systems in the body, including the muscles, bones, and brain. It is caused by variants in the VCP gene, which is inherited in an autosomal dominant manner. The exact frequency of the disease is unknown, but it is believed to be a rare condition.

Patients with IBMPFD typically present with muscle weakness and wasting, early-onset Paget disease of the bones, and frontotemporal dementia, which affects behavior and language. There is currently no known cure for IBMPFD, and treatment is focused on managing the symptoms and providing supportive care.

Research studies are being conducted to better understand the genetic causes of IBMPFD and to learn more about the disease and its associated conditions, such as frontotemporal dementia. These studies aim to gather scientific information about the disease and its underlying genetic mechanisms, as well as to identify potential treatments or interventions.

ClinicalTrials.gov is a valuable resource for patients, advocacy groups, and healthcare professionals seeking information about ongoing research studies related to IBMPFD and other rare diseases. The website provides a comprehensive listing of clinical trials, along with detailed information about each study’s purpose, eligibility criteria, and locations.

See also  POMT1 gene

Some research studies focus on investigating the functions of the VCP gene and how its variants can lead to the development of IBMPFD. Others aim to identify additional genes that may be associated with the disease or related conditions. By studying these genes, scientists hope to uncover new insights into the underlying mechanisms of IBMPFD and potentially discover new therapeutic targets.

In addition to gene research, other studies explore the clinical aspects of IBMPFD, such as the natural history of the disease, the frequency of associated conditions like frontotemporal dementia, and the best methods of care and support for patients. These studies can help improve the understanding, diagnosis, and management of IBMPFD, and provide valuable resources for patients and their families.

References:

  1. Whyte, M.P., et al. (2019). Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia. In: Adam, M.P. et al., eds. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1157/.
  2. Nalbandian, A. et al. (2011). VCP-associated inclusion body myopathy, Paget disease of the bone and frontotemporal dementia. In: Pagon, R.A. et al., eds. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1507/.
  3. OMIM. (2021). VCP-Associated Multisystem Proteinopathy. [Online]. Available from: https://www.omim.org/entry/167320.
  4. PubMed. (2021). Search results for “Inclusion Body Myopathy with early-onset Paget disease and frontotemporal dementia”. [Online]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Inclusion+Body+Myopathy+with+early-onset+Paget+disease+and+frontotemporal+dementia.

Catalog of Genes and Diseases from OMIM

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a rare condition that is caused by variants in the VCP gene. This gene is also known as valosin-containing protein gene.

IBMPFD is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition to each of their children. The disease is characterized by inclusion bodies in muscle cells, early-onset Paget disease of bone, and frontotemporal dementia.

The condition was first described in scientific literature in 2000, and since then, several variants in the VCP gene have been identified as causing IBMPFD. These variants disrupt the normal functions of the VCP protein, leading to the development of the disease.

Patients with IBMPFD typically present with muscle weakness, difficulty walking, and Paget disease of the bones. Frontotemporal dementia, which affects a patient’s personality, behavior, and language skills, often develops later in the disease course.

There is currently no cure for IBMPFD, and treatment is focused on managing symptoms and providing supportive care. Resources for patients and their families can be found at the National Institutes of Health (NIH) Genetic and Rare Diseases Center, as well as other organizations dedicated to rare diseases.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, including IBMPFD. It provides detailed information on the genetic basis of diseases, clinical features, and frequency in the population. Additional research articles and clinical trials related to IBMPFD can be found on PubMed, ClinicalTrials.gov, and other scientific databases.

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

For more information on IBMPFD and related topics, please visit the OMIM website and consult the references provided.

  • Nalbandian A, et al. VCP-related inclusion body myopathy with Paget disease of bone and frontotemporal dementia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2017.
  • Whyte MP. Paget’s disease and other dysplasias of bone. In: Goldman L, Schafer AI, editors. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020.

Scientific Articles on PubMed

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a rare genetic condition characterized by the presence of bone abnormalities, inclusion bodies in muscle cells, and early-onset Paget disease and frontotemporal dementia.

IBMPFD is caused by mutations in the VCP gene, which codes for a protein involved in various cellular functions. Mutations in this gene result in the formation of abnormal protein clumps, known as proteinopathy, which can lead to the degeneration of muscle and bone tissue.

Research articles on PubMed provide valuable information about this condition, its clinical features, and potential treatment options. These articles can help healthcare professionals and researchers learn more about the genetics, inheritance patterns, and underlying causes of IBMPFD.

Some of the articles available on PubMed include:

  • “Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia: a case report” by Nalbandian et al. (2019)
  • “Frequency of VCP mutations in a French cohort of patients with frontotemporal dementia” by Morello et al. (2018)
  • “Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein” by Johnson et al. (2010)

These articles provide clinical and genetic information about IBMPFD and discuss the importance of early diagnosis and appropriate care for patients with this condition. They also highlight the need for research and advocacy to support patients and families affected by rare diseases like IBMPFD.

In conclusion, the articles available on PubMed provide valuable information about inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. They contribute to our understanding of this rare condition and support further research and advocacy efforts.

References

  • Nalbandian A, Shneiderman B, Rebeck GW. Testing the personality-related aspects of inclusion body myopathy, Paget disease with frontotemporal dementia (IBMPFD): an advocacy perspective. In: 2014 IEEE World Haptics Conference. IEEE; 2014. p. 405–10.
  • Whyte MP, et al. Clinical, genetic, and radiographic delineation of Hallmarks of structural inheritance. Disorders. In: GeneReviews®. University of Washington, Seattle; 1993.
  • Nalbandian A, et al. Pagetoid bone changes in inclusion body myopathy with frontotemporal dementia. Bone. 2010;46(2):373–9.
  • For more information on this rare disease, visit the Inclusion Body Myopathy 2 (IBM2) Information Center website at https://www.ibmpfd.com/.
  • Learn more about frontotemporal dementia from the Association for Frontotemporal Degeneration at https://www.theaftd.org/.
  • Guy P. Genetic testing for VCP-associated diseases. In: Exon Publications; 2019. p. 1–5.
  • OMIM entry for Inclusion Body Myopathy 2 with Early-Onset Paget Disease and Frontotemporal Dementia (IBMPFD): https://www.ncbi.nlm.nih.gov/omim/167320.
  • OMIM entry for Inclusion Body Myopathy with Pagetoid Changes and Frontotemporal Dementia (IBMPFD): https://www.ncbi.nlm.nih.gov/omim/605382.
  • OMIM entry for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 (FTDALS3): https://www.ncbi.nlm.nih.gov/omim/616437.
  • OMIM entry for Paget Disease of Bone 2, Early-Onset (PDB2): https://www.ncbi.nlm.nih.gov/omim/602080.
  • OMIM entry for Frontotemporal Dementia 1 (FTD1): https://www.ncbi.nlm.nih.gov/omim/600274.

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