Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare genetic condition characterized by sudden, involuntary movements. This condition typically occurs in patients without any known trigger, such as specific movements or actions. The frequency and severity of the paroxysmal dyskinesia episodes can vary greatly between individuals, with some experiencing multiple episodes per day and others having longer periods of remission.

PNKD is inherited in an autosomal dominant manner, which means that a mutation in a single gene copy is sufficient to cause the condition. Mutations in several genes, including the PNKD gene, have been identified as causes of familial PNKD. Additional research is needed to fully understand the underlying genetic and molecular mechanisms involved in this condition.

Information about familial PNKD can be found in scientific articles, research studies, and resources such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov. These resources provide valuable insights into the symptoms, inheritance patterns, genes involved, and possible treatment options for patients with familial PNKD.

Prioritizing research and advocacy for rare diseases like familial PNKD is crucial to support affected individuals and their families. Genetic testing can help identify the specific gene mutations responsible for familial PNKD, allowing for more accurate diagnosis and personalized treatment strategies. Patient support organizations and advocacy groups can provide additional information, resources, and a community of people facing similar challenges.

Frequency

Familial paroxysmal nonkinesigenic dyskinesia (FPNKD) is a rare condition that occurs in about 1 in 10,000 people. It is characterized by paroxysmal movements that are not triggered by voluntary movements (nonkinesigenic).

This condition is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. FPNKD is associated with mutations in several genes, including the MR-1 gene, which codes for a protein involved in the function of neurons.

The last 20 years have seen the cost of medical care increase about 70% faster than the rate of general inflation as measured by the Consumer Price Index (CPI), the Research Division of the Federal Reserve Bank of St. Louis Healthcare inflation dropped to a historical low after 2010 but is again on the rise as of 2018, according to Bloomberg.

More information about the genes associated with FPNKD can be found in the OMIM catalog, a free online resource for genetic information. The OMIM catalog provides additional resources such as articles, clinical studies, and references on this condition and other rare diseases.

Studies and patient support organizations such as the PTACeK Lab and the Genetic and Rare Diseases Information Center (GARD) can provide further resources and information on FPNKD. Testing for mutations in the associated genes can confirm a diagnosis of FPNKD.

It is important for individuals with FPNKD and their families to learn about the condition, its causes, and its inheritance pattern. Support from advocacy organizations and participating in clinical trials can also provide additional resources and support for individuals with FPNKD.

Causes

Familial paroxysmal nonkinesigenic dyskinesia (Familial PNKD) is a rare genetic condition that is associated with abnormal movements. It is caused by mutations in certain genes that are involved in the function of neurons in the brain.

Research studies have identified several genes that are associated with Familial PNKD. These genes include the PNKD gene, PTEN-induced putative kinase 1 gene (PINK1), and the sodium channel alpha subunit gene (SCN2A).

Some people with Familial PNKD have mutations in the PNKD gene, which provides instructions for making a protein called paroxysmal nonkinesigenic dyskinesia protein. This protein is thought to play a role in the regulation of neurotransmitters, which are chemicals that transmit signals between neurons in the brain.

Mutations in the PINK1 gene and the SCN2A gene have also been found in a small number of individuals with Familial PNKD. These genes are involved in the normal functioning of neurons and are thought to play a role in the development and maintenance of neural circuits that control movement.

It is important to note that not all individuals with Familial PNKD will have mutations in these specific genes. Other genes and genetic factors may also contribute to the development of the condition.

More information about the causes of Familial PNKD can be found in scientific articles and research studies. Additional resources for learning about the genetics of this condition can be found in the OMIM catalog of human genes and genetic disorders.

Genetic testing is available for individuals who have symptoms of Familial PNKD and are interested in learning more about the genetic basis of their condition. This testing can help to confirm a diagnosis and provide information about inheritance patterns and genetic counseling options.

If you or a family member have been diagnosed with Familial PNKD, it may be helpful to connect with a support center or advocacy organization that provides information and resources for individuals and families affected by rare genetic diseases. These organizations can help you access clinical trials, learn more about the condition, and connect with other people who are dealing with similar challenges.

References:

1. Epub The OMIM (Online Mendelian Inheritance in Man) catalog https://www.omim.org
2. PubMed, a database of scientific articles https://pubmed.gov
3. The PLoS One research article titled “Mutations in PNKD causing paroxysmal dyskinesia alters protein dynamics but fails to influence homo-dimerization” by Panagiotakaki E, et al., 2015

Learn more about the gene associated with Familial paroxysmal nonkinesigenic dyskinesia

Familial paroxysmal nonkinesigenic dyskinesia (FPNKD) is a rare condition that causes abnormal involuntary movements. It is commonly associated with mutations in the PRRT2 gene, which is involved in the function of neurons in the brain.

Studies have shown that mutations in the PRRT2 gene are responsible for the majority of cases of FPNKD. This gene provides instructions for making a protein that is found in neurons and is thought to play a role in regulating neurotransmitter release.

The frequency of PRRT2 gene mutations in people with FPNKD varies among different populations. Some studies have reported a high frequency of mutations in certain ethnic groups, while others have found a lower frequency.

To learn more about the PRRT2 gene, you can visit the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information on genes associated with various diseases, including FPNKD.

Additional scientific articles and research papers are available on PubMed, a database of biomedical literature. These resources can provide more detailed information on the genetic basis of FPNKD and the role of the PRRT2 gene.

ClinicalTrials.gov is another useful resource for learning about ongoing research studies and clinical trials related to FPNKD. This website provides information on current studies that are investigating potential treatments or other aspects of the condition.

For support and advocacy for individuals and families affected by FPNKD, you can contact organizations such as the Dyskinesia Support and Advocacy Center. These organizations provide resources, information, and support to help individuals and families manage the condition.

In summary, Familial paroxysmal nonkinesigenic dyskinesia is a rare condition caused by mutations in the PRRT2 gene. To learn more about this gene and its association with FPNKD, you can explore the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and ClinicalTrials.gov. Support and advocacy resources are also available to help individuals and families affected by FPNKD.

Inheritance

Familial paroxysmal nonkinesigenic dyskinesia (FPNKD) has an autosomal dominant inheritance pattern, which means that a person who carries a single copy of the mutated gene has a 50% chance of passing the condition on to each of their children.

The genetic cause of FPNKD has been studied extensively, and several genes have been associated with the condition. The primary gene associated with FPNKD is called PRRT2. Mutations in the PRRT2 gene are responsible for the majority of FPNKD cases, although mutations in other genes have also been reported.

To date, more than 80 different mutations in the PRRT2 gene have been identified in individuals with FPNKD. These mutations can disrupt the function of the PRRT2 protein, which is thought to play a role in the regulation of neurotransmitter release in neurons.

FPNKD is a rare condition, and its exact frequency in the general population is unknown. However, it is estimated to affect less than 1 in 100,000 people.

Genetic testing is available for FPNKD and can help confirm a diagnosis in individuals suspected of having the condition. Testing may also be used to identify family members at risk of inheriting the condition.

Additional resources, including patient advocacy organizations, can provide further support and information about FPNKD. Organizations such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center have articles and information about FPNKD and related diseases.

Scientific research on FPNKD, its causes, and its associated genes is ongoing. Studies published in PubMed and other scientific journals provide valuable information for both researchers and healthcare professionals seeking to learn more about the condition.

References and resources:

• – PubMed – Collection of scientific articles on FPNKD
• – OMIM – Online resource on genetic conditions
• – ClinicalTrials.gov – Database of clinical trials
• – Genetic and Rare Diseases Information Center – Information on rare diseases

Other Names for This Condition

There are several other names used to refer to Familial paroxysmal nonkinesigenic dyskinesia, including:

• Familial paroxysmal nonkinesigenic choreoathetosis
• Familial paroxysmal dystonia
• Familial paroxysmal choreoathetosis
• Familial episodic kinesigenic dyskinesia
• Familiar episodic nonkinesigenic dyskinesia

These alternate names reflect the various movement disorders associated with this condition. To learn more about the specific symptoms, testing, and inheritance pattern associated with Familial paroxysmal nonkinesigenic dyskinesia, it is recommended to consult scientific articles, genetic research studies, and clinical trial information.

For additional scientific information about this condition, the OMIM database and PubMed can be valuable resources. Support and advocacy organizations, such as the National Organization for Rare Disorders or the Dyskinesia Advocacy and Research Center, may also provide helpful resources for patients and families. Furthermore, genetic testing may help to identify the specific genes that are involved in causing this condition.

Each individual with Familial paroxysmal nonkinesigenic dyskinesia may experience different frequencies and types of movements, so it is important to consult with a healthcare professional for personalized diagnosis and management strategies.

Additional Information Resources

Here are some additional resources for learning more about Familial Paroxysmal Nonkinesigenic Dyskinesia (FPNKD):

• Center for Rare Diseases at the Ptacek Lab: The Center for Rare Diseases at the Ptacek Lab, led by Dr. Louis J. Ptacek, conducts research and provides support for rare genetic conditions like FPNKD. They have information on the genes associated with FPNKD, testing for the condition, and more. Visit their website for additional information: https://ptacek.ucsf.edu/.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic disorders. They have an entry on FPNKD that provides detailed information about the condition, the genes involved, and associated clinical features. You can access the entry here: https://www.omim.org/entry/118800.
• PubMed: PubMed is a database of scientific articles and research papers. Searching for “Familial Paroxysmal Nonkinesigenic Dyskinesia” on PubMed will provide you with a list of relevant studies and articles on the topic. You can access PubMed here: https://pubmed.ncbi.nlm.nih.gov/.
• Additional Scientific Articles: There are many scientific articles published on FPNKD that provide detailed information about the condition, its causes, and associated functional changes in neurons. You can access these articles through PubMed or other scientific databases.
• Support and Advocacy: There are organizations and advocacy groups that provide support and information for individuals and families affected by rare diseases like FPNKD. They can provide resources, connect you with other people affected by the condition, and offer support. One example is the Rare Diseases Advocacy Research & Education (RARE) Project. You can find more information about them on their website: https://rareproject.org/.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical trials for various diseases and conditions. You can search for ongoing or completed clinical trials related to FPNKD on their website. Visit the website here: https://www.clinicaltrials.gov/.

These resources will provide you with additional information, support, and research opportunities related to Familial Paroxysmal Nonkinesigenic Dyskinesia. Take advantage of these resources to learn more about the condition, connect with other affected individuals, and stay updated on the latest research and advancements.

Genetic Testing Information

Genetic testing plays a crucial role in understanding Familial Paroxysmal Nonkinesigenic Dyskinesia (PNKD). By analyzing an individual’s DNA, scientists can uncover important information about the underlying causes of this rare condition.

Genetic testing allows researchers to identify specific genes associated with PNKD and learn more about their function within neurons. This information is invaluable in understanding the inheritance patterns of PNKD and can help predict the likelihood of the condition occurring in other family members.

The discovery of genes associated with PNKD has been a result of extensive research and collaboration. The Ptacek Lab at the University of Utah has played an instrumental role in cataloging and identifying genes linked to PNKD. Their research has shed light on the various causes of PNKD and has contributed to the development of targeted treatments.

For people affected by PNKD, genetic testing can provide answers and guidance. It can confirm the diagnosis, provide information about the specific genes involved, and offer insights into the prognosis and potential treatment options. Genetic testing can also help individuals make informed decisions about family planning and inheritance.

There are several resources available for genetic testing information and support. The Genetic Testing Registry (GTR) is a central repository of genetic test information, providing a comprehensive catalog of available tests and their associated genes. It also includes links to research articles and other references for further reading.

In addition to the GTR, other resources like OMIM (Online Mendelian Inheritance in Man) and PubMed offer more scientific information about PNKD and its associated genes. These databases contain a wealth of literature on PNKD and related conditions, making them valuable references for clinicians, researchers, and individuals seeking more information.

Support and advocacy organizations, such as the National Organization for Rare Disorders (NORD), can also provide valuable information and resources for individuals and families affected by PNKD. These organizations offer support networks, educational materials, and access to clinical trials and research studies.

In conclusion, genetic testing is an essential tool in understanding Familial Paroxysmal Nonkinesigenic Dyskinesia. It provides valuable information about the underlying causes, inheritance patterns, and prognosis of this rare condition. With the resources available today, individuals and families affected by PNKD can access the necessary support and information to navigate this challenging condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free resource provided by the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH). GARD provides information on genetic and rare diseases, including Familial Paroxysmal Nonkinesigenic Dyskinesia (FPNKD).

FPNKD is a rare condition that causes episodes of abnormal movements. The condition is not triggered by voluntary movements and can occur during rest or sleep. FPNKD is inherited in an autosomal dominant manner, which means that each affected person has a 50% chance of passing the condition on to each of their children.

To date, two genes have been associated with FPNKD: the PRRT2 and SLC2A2 genes. Mutations in these genes can disrupt the function of proteins in neurons, leading to the abnormal movements seen in FPNKD. Research is ongoing to learn more about the causes and mechanisms of FPNKD.

The GARD website provides a wealth of information about FPNKD, including its frequency, signs and symptoms, inheritance, and associated genes. In addition, the website offers links to other resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed articles, for further reading on the topic.

People interested in participating in research studies or clinical trials for FPNKD can find information on clinicaltrials.gov. This function allows individuals to search for ongoing studies and find opportunities to contribute to scientific research on the condition.

GARD also offers additional resources for patients and their families, including support and advocacy organizations that specialize in genetic diseases. These resources can provide emotional support, educational materials, and information on available testing and treatments for FPNKD.

Patient Support and Advocacy Resources

Patients and families affected by Familial Paroxysmal Nonkinesigenic Dyskinesia (PNKD) can find support and resources from various organizations dedicated to helping people with rare genetic diseases. These resources provide information, support, and advocacy for individuals and families affected by PNKD.

• The Ptacek Laboratory – The Ptacek Laboratory at the University of California, San Francisco is a renowned research center focusing on understanding the genetic causes of movement disorders. They offer resources and information about PNKD and other related diseases on their website.
• OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genes and genetic disorders. It offers detailed entries on PNKD and related genes, inheritance patterns, and clinical symptoms.
• Rare Diseases Scientific Catalog – The Rare Diseases Scientific Catalog is a collection of references and scientific articles about rare diseases, including PNKD. It is a valuable resource for researchers, clinicians, and patients seeking information.
• PubMed – PubMed is a free online database that provides access to a vast collection of medical research articles. Individuals can search for specific articles on PNKD and related subjects, which can help them learn more about the condition and its causes.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry and database of clinical studies for various health conditions. Patients and families affected by PNKD can search for ongoing studies and clinical trials related to the condition. This resource can provide opportunities for participation in research and access to potential new treatments.

In addition to these resources, patients and families can also connect with patient support groups and advocacy organizations that focus on movement disorders and rare genetic diseases. These groups provide a platform for sharing experiences, exchanging information, and advocating for improved awareness and support for PNKD and its affected individuals.

Research Studies from ClinicalTrialsgov

Scientific research studies are essential in understanding the causes, inheritance patterns, and function of genes associated with familial paroxysmal nonkinesigenic dyskinesia and other rare diseases. ClinicalTrialsgov is a valuable resource that provides information about ongoing and completed studies related to this condition.

Research studies aim to learn more about the genes and proteins involved in the condition, as well as the frequency and characteristics of the movements that occur during paroxysmal nonkinesigenic dyskinesia. By studying patients with this rare condition, researchers hope to uncover the underlying causes and develop more effective treatments.

ClinicalTrialsgov is a centralized database that allows individuals to search for clinical trials and research studies related to familial paroxysmal nonkinesigenic dyskinesia and other diseases. The database provides information about the purpose, criteria for participation, and contact information for each study.

The site also offers additional resources such as advocacy and support groups for patients and their families. Furthermore, it provides links to PubMed and Online Mendelian Inheritance in Man (OMIM) references, which contain valuable articles and genetic information.

Genetic testing is an important component of research studies on familial paroxysmal nonkinesigenic dyskinesia. By analyzing the patient’s genes, scientists can identify specific gene mutations associated with the condition. This information helps to better understand the inheritance patterns and determine appropriate treatment options for affected individuals.

By participating in research studies, people with familial paroxysmal nonkinesigenic dyskinesia and their families contribute to the advancement of scientific knowledge and the development of better treatments. ClinicalTrialsgov provides a centralized center for patients to find and learn more about ongoing research studies.

References:

• 1. ClinicalTrialsgov – https://www.clinicaltrials.gov/
• 2. PubMed – https://pubmed.ncbi.nlm.nih.gov/
• 3. Online Mendelian Inheritance in Man (OMIM) – https://omim.org/

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information about various genetic conditions. In the context of familial paroxysmal nonkinesigenic dyskinesia, OMIM offers a wealth of scientific articles, studies, and resources.

Paroxysmal nonkinesigenic dyskinesia is a rare condition characterized by sudden, involuntary movements that occur spontaneously or are triggered by specific actions. It is caused by genetic mutations in certain genes that affect the normal function of neurons.

OMIM provides a list of genes associated with this condition and additional information about each gene’s function, inheritance patterns, and known variants. Genetic testing is available for these genes to confirm a diagnosis in affected individuals.

Some of the genes associated with familial paroxysmal nonkinesigenic dyskinesia include:

• PNKD: This gene is believed to play a role in regulating the excitability of neurons. Mutations in the PNKD gene have been found in some individuals with the condition. For more information, refer to the scientific articles and references listed on OMIM.
• MR-1: Mutations in the MR-1 gene have also been associated with this condition. Research studies have indicated its involvement in the pathogenesis of paroxysmal nonkinesigenic dyskinesia.

OMIM provides a valuable resource for patients, clinicians, and researchers interested in familial paroxysmal nonkinesigenic dyskinesia. It offers a wide range of information on the condition, including its frequency, clinical features, inheritance patterns, and genetic testing options. Additionally, OMIM provides support and advocacy resources for individuals and families affected by this rare disease.

Individuals can freely access OMIM and learn more about familial paroxysmal nonkinesigenic dyskinesia and other rare genetic diseases. OMIM also provides links to clinical trials and research studies, offering opportunities for individuals to participate in cutting-edge research and contribute to the advancement of knowledge about this condition.

OMIM Resources	Additional Information
OMIM Homepage	https://www.omim.org/
OMIM Entry on Paroxysmal Nonkinesigenic Dyskinesia	https://www.omim.org/entry/118800
OMIM Genetic Testing Registry	https://www.ncbi.nlm.nih.gov/gtr/
ClinicalTrials.gov	https://www.clinicaltrials.gov/

By exploring OMIM and its vast catalog of genes and diseases, researchers and clinicians can gain a deeper understanding of the underlying causes and mechanisms of familial paroxysmal nonkinesigenic dyskinesia, ultimately leading to improved diagnosis, treatment, and support for affected individuals and their families.

Scientific Articles on PubMed

PubMed is a free resource that provides access to a wide range of scientific articles on various topics, including rare genetic diseases such as Familial Paroxysmal Nonkinesigenic Dyskinesia (FPNKD). By searching PubMed, people can learn more about the protein function, gene testing, and causes for this rare condition.

Familial Paroxysmal Nonkinesigenic Dyskinesia is a rare genetic condition that causes episodic and involuntary movements. It is associated with mutations in specific genes that are expressed in neurons. To understand the function of these genes and how mutations lead to the occurrence of FPNKD, scientists have conducted various studies and published their findings in scientific articles.

PubMed provides a catalog of articles on FPNKD, which includes information about the clinical features, genetic inheritance patterns, and frequency of this rare condition. Each article can provide more insight into the causes and mechanisms underlying FPNKD.

One of the genes associated with FPNKD is referred to as “DYT8” in the OMIM catalog. By searching for the gene name “DYT8” on PubMed, people can find articles that discuss its function, inheritance patterns, and potential therapeutic approaches.

In addition to scientific articles, PubMed also provides links to other resources related to FPNKD, such as clinical trials on ClinicalTrials.gov, advocacy groups that support people with FPNKD, and patient information about this condition.

By reading scientific articles on PubMed, people can gain a better understanding of the genetic basis, clinical features, and potential treatment options for Familial Paroxysmal Nonkinesigenic Dyskinesia. This information can be valuable for patients, their families, and healthcare professionals.

References

• Ptacek, L.J., and Fu, Y.-H. (2010). Familial paroxysmal nonkinesigenic dyskinesia. In: GeneReviews((R)). M.P. Adam, H.H. Ardinger, R.A. Pagon, et al. (eds). University of Washington, Seattle.
• OMIM. (2019). Familial paroxysmal nonkinesigenic dyskinesia. Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/118800
• PubMed. (2019). Familial paroxysmal nonkinesigenic dyskinesia. National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/?term=Familial+paroxysmal+nonkinesigenic+dyskinesia
• Movement Disorders Society. (2019). Paroxysmal dyskinesias. Retrieved from https://www.movementdisorders.org/MDS/About/Movement-Disorder-Overviews/Paroxysmal-Dyskinesias.htm
• Rare Diseases Advocacy and Research Center. (2019). Familial paroxysmal non-kinesigenic dyskinesia. Retrieved from https://rdacrare.disease-info.eu/en/home/related-diseases/diseases/familial-paroxysmal-non-kinesigenic-dyskinesia/
• Genetics Home Reference. (2019). Familial paroxysmal nonkinesigenic dyskinesia. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia
• ClinicalTrials.gov. (2019). Search results for “familial paroxysmal nonkinesigenic dyskinesia”. U.S. National Library of Medicine. Retrieved from https://clinicaltrials.gov/ct2/results?cond=familial+paroxysmal+nonkinesigenic+dyskinesia&term=&cntry=&state=&city=&dist=