Hyperkalemic periodic paralysis is a rare genetic disorder that affects the functionality of muscles. It is characterized by episodes of paralysis and an increase in potassium ions in the blood. This condition is caused by mutations in specific genes associated with the primary genetic causes of hyperkalemic periodic paralysis.

Patients with hyperkalemic periodic paralysis may experience episodes of muscle weakness or paralysis, often triggered by exercise, stress, or a high-potassium diet. These episodes can last from a few minutes to several hours and can significantly impact the daily lives of people affected by this condition.

Research about the primary genetic causes of hyperkalemic periodic paralysis is ongoing, with scientists studying various genes and their function in potassium ion regulation. Several genes have been identified as potential causes, including the SCN4A and CACNA1S genes. Testing for these gene mutations can be done to confirm a diagnosis.

Additional clinical trials and scientific articles on hyperkalemic periodic paralysis can be found on platforms such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide valuable information for patients, researchers, and advocacy groups, supporting the advancement of knowledge and treatment options for this rare disease.

Frequency

Hyperkalemic periodic paralysis is a rare condition. The exact frequency of this condition is not well known due to limited studies and data available. However, it is estimated that the prevalence of hyperkalemic periodic paralysis is around 1 in 100,000 people.

This condition is primarily caused by mutations in the SCN4A gene. SCN4A gene mutations result in the dysfunction of sodium ion channels in muscle cells, leading to abnormal changes in blood potassium levels. Other genes associated with this condition include CACNA1S, which is associated with hypokalemic periodic paralysis, and RYR1, which is associated with malignant hyperthermia.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Additional research and genetic testing are needed to learn more about the frequency and causes of hyperkalemic periodic paralysis. Resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center can provide more information on this rare condition.

Advocacy groups and patient support organizations can also provide support and information for individuals and families affected by hyperkalemic periodic paralysis. ClinicalTrials.gov is a valuable resource for finding clinical trials and research studies related to this condition.

Causes

Hyperkalemic periodic paralysis is a rare genetic condition that affects the muscles and is associated with an increase in blood potassium levels. The primary cause of this condition is mutations in certain genes that are responsible for the function of ion channels in muscle cells.

There are several genes that have been identified as being associated with hyperkalemic periodic paralysis. These include the SCN4A, CACNA1S, and KCNJ18 genes. Mutations in these genes can lead to changes in the function of ion channels, causing an increase in potassium ions to stay in the muscles.

People with hyperkalemic periodic paralysis inherit these gene mutations from their parents, and the condition can be passed down through generations. The inheritance pattern of hyperkalemic periodic paralysis is usually autosomal dominant, meaning that a person only needs to inherit one copy of the mutated gene to develop the condition.

For more information about the specific genes associated with hyperkalemic periodic paralysis and their function, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information about genes, mutations, and associated diseases.

In addition to genetic causes, certain factors can trigger an episode of paralysis in people with hyperkalemic periodic paralysis. These triggers can include high potassium intake, stress, cold temperature, exercise, and certain medications.

Research studies and clinical trials are ongoing to learn more about the causes and mechanisms of hyperkalemic periodic paralysis, as well as to develop better diagnostic testing and treatment options. To find out more about ongoing research studies and clinical trials related to hyperkalemic periodic paralysis, you can visit websites such as ClinicalTrials.gov.

Support and advocacy organizations, such as the Periodic Paralysis Association, provide additional information and resources for individuals and families affected by hyperkalemic periodic paralysis.

Learn more about the gene associated with Hyperkalemic periodic paralysis

Hyperkalemic periodic paralysis is a rare genetic condition that affects the function of muscles and is characterized by episodes of muscle weakness or paralysis. This condition is primarily caused by changes (mutations) in the SCN4A gene.

The SCN4A gene provides instructions for making a protein called a sodium channel alpha subunit, which is involved in the movement of sodium ions in and out of cells. Sodium ions are important for normal muscle function, and mutations in the SCN4A gene can disrupt the normal flow of these ions, leading to muscle weakness or paralysis.

Studies have shown that these mutations in the SCN4A gene result in an increased influx of sodium ions into muscle cells. This abnormal sodium ion flow can cause the muscles to become overexcitable, leading to episodes of muscle weakness or paralysis.

If you or someone you know has been diagnosed with Hyperkalemic periodic paralysis, genetic testing can be done to confirm the presence of mutations in the SCN4A gene. This testing can also help determine the specific mutation(s) present, which can provide additional insight into the condition.

Genetic testing for Hyperkalemic periodic paralysis is available through various commercial laboratories and research centers. It is important to consult with a healthcare professional or a genetic counselor to discuss the testing options and the implications of the results.

Understanding the genetic basis of Hyperkalemic periodic paralysis is important for research and the development of potential treatments. There are ongoing clinical trials and scientific studies focused on understanding the function of the SCN4A gene and its role in muscle weakness and paralysis.

For more information about the SCN4A gene and Hyperkalemic periodic paralysis, you can refer to the following resources:

• The Genetic and Rare Diseases Information Center (GARD) provides information about Hyperkalemic periodic paralysis and other rare genetic diseases. You can visit their website at https://rarediseases.info.nih.gov/diseases/7338/hyperkalemic-periodic-paralysis.
• The National Institute of Neurological Disorders and Stroke (NINDS) provides information about Hyperkalemic periodic paralysis and supports research on this condition. You can visit their website at https://www.ninds.nih.gov/Disorders/All-Disorders/Hyperkalemic-Periodic-Paralysis-Information-Page.
• The OMIM database provides detailed information about the SCN4A gene and its associated genetic conditions. You can visit their website at https://www.omim.org/entry/603967.
• The PubMed database contains scientific articles and studies related to the SCN4A gene and Hyperkalemic periodic paralysis. You can search for relevant articles using keywords such as “SCN4A gene” and “Hyperkalemic periodic paralysis” on their website at https://pubmed.ncbi.nlm.nih.gov/.
• The ClinicalTrials.gov database provides information about ongoing clinical trials and research studies related to Hyperkalemic periodic paralysis. You can search for relevant studies using keywords such as “Hyperkalemic periodic paralysis” on their website at https://www.clinicaltrials.gov/.

These resources can provide valuable information, support, and references for individuals and families affected by Hyperkalemic periodic paralysis and other related conditions. It’s important to stay informed and connected to the latest research, clinical trials, and advocacy efforts.

Inheritance

Inherited hyperkalemic periodic paralysis (HyperPP) is a rare genetic condition that affects the muscles’ ability to function properly. It is associated with mutations in genes that control the movement of ions, especially potassium, in and out of muscle cells.

There are two main genes associated with HyperPP: CACNA1S and SCN4A. These genes play a crucial role in regulating the flow of potassium ions in muscles. Mutations in either of these genes can cause periodic paralysis by disrupting the balance of potassium ions.

The inheritance pattern of HyperPP can vary depending on the gene involved. In most cases, the condition follows an autosomal dominant pattern. This means that a person with a mutation in one of the HyperPP genes has a 50% chance of passing the condition on to each of their children.

In rare cases, HyperPP can also be inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the condition. However, autosomal recessive inheritance is less common in HyperPP compared to autosomal dominant inheritance.

Genetic testing can be done to confirm a diagnosis of HyperPP and identify the specific mutation responsible. This information can help determine the inheritance pattern, provide more information about the condition, and guide treatment decisions.

For additional information about HyperPP inheritance and genetic testing, you can visit the websites of advocacy groups, research centers, and scientific resources. Some helpful resources include the National Center for Biotechnology Information (NCBI), Online Mendelian Inheritance in Man (OMIM), PubMed, and ClinicalTrials.gov. These websites provide access to articles, studies, and clinical trials related to HyperPP and its genetic causes.

Other Names for This Condition

Hyperkalemic periodic paralysis is also known by several other names, including:

• Hyperkalemic periodic paralysis
• HPP
• HyperPP
• Hyperpotassemia periodic paralysis
• Hyperkalemia periodic paralysis
• Hyperkalemic paralysis
• HyperPP syndrome
• Hyperkalemic familial periodic paralysis
• HyperPP syndrome, salt-sensitive
• Hyperkalemia with adrenergic response abnormality

These names refer to the same condition, which is characterized by episodes of muscle weakness or paralysis caused by an increase in potassium (usually during rest or sleep).

It is important to note that hyperkalemic periodic paralysis is a genetic disorder. Mutations in certain genes are associated with this condition, including the SCN4A gene and rare abnormalities in other genes. Studies have shown that mutations in the SCN4A gene are the primary cause of hyperkalemic periodic paralysis and the most frequently found genetic change associated with the condition.

For more information about the genes associated with hyperkalemic periodic paralysis, visit the Genetic Testing Registry (GTR) of the National Center for Biotechnology Information (NCBI). The GTR provides resources for researchers and other professionals, as well as information for patients and their families.

Additional information about hyperkalemic periodic paralysis can be found on the OMIM database, a catalog of human genes and genetic disorders.

To stay up-to-date on the latest research and clinical trials related to hyperkalemic periodic paralysis, visit websites such as PubMed (a search engine for scientific articles) and ClinicalTrials.gov.

If you or someone you know is affected by hyperkalemic periodic paralysis, there are advocacy groups and support resources available. These organizations can provide information and assistance, as well as help connect you with others who share similar experiences and challenges.

Learn more about this condition and its inheritance pattern by contacting a genetic center near you.

Additional Information Resources

Here are some additional resources for learning more about Hyperkalemic periodic paralysis:

• References: The following references provide scientific articles and studies on Hyperkalemic periodic paralysis:

  – Hyperkalemic Periodic Paralysis. OMIM. Retrieved from https://www.omim.org/entry/170500

  – Jurkat-Rott, K., et al. (2010). Clinical spectrum of muscle channelopathies and mutation-defined genotype-phenotype relations. The Proceedings of the National Academy of Sciences, 107(12), 5385-5390. PubMed PMID: 20194785.

• Gene and Inheritance Information: To learn more about the genes and inheritance patterns associated with Hyperkalemic periodic paralysis, visit the OMIM entry on Hyperkalemic periodic paralysis mentioned above.
• Genetic Testing: Genetic testing can help diagnose Hyperkalemic periodic paralysis and identify specific mutations. You can find more information on genetic testing and available testing centers on the OMIM entry mentioned above.
• Patient Advocacy and Support: The following organizations provide support and resources for individuals with Hyperkalemic periodic paralysis:

  – Periodic Paralysis Association. Retrieved from https://www.periodicparalysis.org/

  – Rare Diseases Clinical Research Network. Retrieved from https://www.rarediseasesnetwork.org/cms/inc/sites/10341/img2/Publications-001_HYPPL-RDCRN-consent.pdf

• Clinical Trials: For information on current clinical trials related to Hyperkalemic periodic paralysis, visit ClinicalTrials.gov. Use the search term “Hyperkalemic periodic paralysis” to find more information and ongoing studies.
  – ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/

These resources should provide you with additional information, support, and research opportunities related to Hyperkalemic periodic paralysis. Stay informed and continue to learn about this rare condition and associated genetic changes.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the causes of hyperkalemic periodic paralysis. By analyzing an individual’s genes, scientists can identify changes or mutations that are associated with the condition.

The primary mode of inheritance for hyperkalemic periodic paralysis is autosomal dominant, meaning that only one copy of the altered gene is necessary for the condition to be expressed.

There are several genes associated with hyperkalemic periodic paralysis, including CACNA1S, SCN4A, and SCN4B. Mutations in these genes can disrupt the normal function of ion channels in muscle cells and lead to episodes of paralysis.

To learn more about specific genes and their associated mutations, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. This database provides information about the genes involved in hyperkalemic periodic paralysis and other related conditions.

Genetic testing can be done using a blood sample or other biological samples from the patient. These samples are analyzed in a laboratory to identify any changes or mutations in the genes associated with hyperkalemic periodic paralysis.

In addition to genetic testing, there are other resources available to support individuals and families affected by hyperkalemic periodic paralysis. Advocacy organizations and support groups can provide information, connect affected individuals with others who have the condition, and offer emotional support.

ClinicalTrials.gov is a useful resource for finding ongoing research studies related to hyperkalemic periodic paralysis. These studies may investigate new treatments, further the understanding of the condition, or explore the impact of certain genetic variants on the disease.

Scientific articles published in journals and on PubMed can provide more information about the genetics and clinical features of hyperkalemic periodic paralysis. These articles can be a valuable source of knowledge for doctors, researchers, and individuals interested in learning more about the condition.

It is important to stay up to date with the latest research and information about hyperkalemic periodic paralysis and associated genes. By staying informed, individuals and healthcare providers can better understand the causes and potential treatments for this rare condition.

• Online Mendelian Inheritance in Man (OMIM) catalog: www.omim.org
• ClinicalTrials.gov: www.clinicaltrials.gov
• PubMed: www.pubmed.ncbi.nlm.nih.gov

Useful Resources:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource for people with rare diseases and their advocates. GARD provides information about this condition, including its causes, frequency, inheritance, and associated genes. Patients and their families can learn more about hyperkalemic periodic paralysis (hyperPP) and related rare diseases through the GARD website.

HyperPP is a rare genetic condition that affects the function of muscles. It is caused by mutations in certain genes that regulate potassium ions in muscle cells. These mutations can lead to episodes of weak muscles and paralysis. The frequency of hyperPP is not well known, but it is estimated to occur in about 1 in 100,000 people.

GARD offers additional resources on hyperkalemic periodic paralysis, including links to scientific articles, research studies, and clinical trials. The GARD website has a searchable catalog of rare diseases, and users can find more information about hyperPP by searching for its OMIM number, 170500. The GARD website also provides links to other advocacy and support organizations for patients and their families.

ClinicalTrials.gov is a resource that provides information on current research studies and clinical trials for hyperkalemic periodic paralysis. By searching for “hyperkalemic periodic paralysis” on ClinicalTrials.gov, patients can find opportunities to participate in research and contribute to the understanding of this condition.

References:

• Jurkat-Rott, K., & Lehmann-Horn, F. (2016). Muscle channelopathies and critical points in functional and genetic studies. Journal of Clinical Investigation, 126(6), 2021-2036.
• OMIM: 170500. Hyperkalemic periodic paralysis. National Center for Biotechnology Information. Retrieved from https://www.omim.org/entry/170500
• Testing for Hyperkalemic Periodic Paralysis. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6549/testing-for-hyperkalemic-periodic-paralysis
• PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Patient Support and Advocacy Resources

If you or someone you know is affected by Hyperkalemic periodic paralysis, there are several patient support and advocacy resources available. These resources provide scientific information, support, and advocacy services for individuals and families living with this rare condition. Here are some recommended resources:

• Jurkat-Rott Center for Primary Periodic Paralyses – This center specializes in research, diagnosis, and treatment of primary periodic paralyses, including Hyperkalemic periodic paralysis. They offer comprehensive information about the condition and provide resources for patients and healthcare professionals. Visit their website at www.periodicparalysis.org for more information.
• Genetic and Rare Diseases Information Center – Run by the National Institutes of Health, this center offers information about rare genetic diseases, including Hyperkalemic periodic paralysis. They provide resources, assistance in finding clinical trials, and support for patients and families. Visit their website at https://rarediseases.info.nih.gov/ to learn more.
• OMIM – Online Mendelian Inheritance in Man – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about gene mutations associated with Hyperkalemic periodic paralysis, as well as references to scientific articles and research studies. Access the catalog at https://omim.org/.
• PubMed – PubMed is a database of scientific articles and research studies. By searching for “Hyperkalemic periodic paralysis” or related terms, you can find additional information about the condition, its symptoms, and treatment options. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials around the world. By searching for “Hyperkalemic periodic paralysis” on their website, you can find ongoing or upcoming studies that may be relevant to your condition. Visit https://clinicaltrials.gov/ for more information.

These resources will provide you with valuable information and connect you with the scientific community and other individuals affected by Hyperkalemic periodic paralysis. Stay informed, stay connected, and reach out for support.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for information on research studies related to hyperkalemic periodic paralysis and other rare diseases. The website serves as a catalog of clinical trials conducted around the world, providing patients and researchers with access to important information about ongoing studies.

Hyperkalemic periodic paralysis is a rare genetic condition that affects the function of muscles by causing them to stay contracted. This leads to episodes of muscle weakness or paralysis, often triggered by high potassium levels in the blood. The condition is associated with mutations in certain genes, such as the SCN4A gene.

ClinicalTrials.gov provides a comprehensive database of clinical studies focused on hyperkalemic periodic paralysis and related conditions. These studies aim to increase our understanding of the causes and mechanisms of the condition, as well as develop new treatment approaches.

By searching for hyperkalemic periodic paralysis on ClinicalTrials.gov, patients and researchers can find studies investigating genetic changes and inheritance patterns, as well as additional information on associated symptoms and patient support resources. The database also includes links to references from scientific articles in OMIM, PubMed, and other scientific resources.

One example of a study listed on ClinicalTrials.gov is a research project led by Dr. Frank Lehmann-Horn and Dr. Karin Jurkat-Rott from the Ulm University Medical Center in Germany. Their study aims to identify the specific genetic mutations responsible for hyperkalemic periodic paralysis and better understand the effects of these mutations on ion channel function in muscles.

By participating in research studies listed on ClinicalTrials.gov, patients with hyperkalemic periodic paralysis can contribute to the advancement of knowledge about this rare condition. They also have the opportunity to learn about new treatment options and connect with advocacy organizations and patient support groups.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information about rare diseases associated with genetic mutations. These diseases can cause hyperkalemic periodic paralysis, a condition characterized by muscle paralysis and an increase in blood potassium levels.

The catalog lists genes that have been identified to be responsible for these rare diseases. Testing for mutations in these genes can help in diagnosing the condition and determining its inheritance pattern.

OMIM provides clinical resources and scientific articles on the causes, function, and changes in these genes. More information about each gene and its associated diseases can be found in the catalog, along with references to other primary research studies.

• Learn about the genetics of hyperkalemic periodic paralysis and the associated genes on OMIM.
• Find resources for genetic testing, clinical trials, and advocacy on this condition.
• Stay updated with the latest research and scientific articles on the topic.
• Explore the frequency of these mutations in the population.

OMIM also provides additional information on potassium ions and their role in muscle function. The catalog is a valuable resource for people seeking information about rare diseases and the genes responsible for them.

References:

1. Jurkat-Rott, K. (2013). Hyperkalemic periodic paralysis. Advances in genetics, 84, 321-349. doi: 10.1016/B978-0-12-407695-2.00008-4
2. OMIM. (n.d.). Hyperkalemic Periodic Paralysis, Type 1; HYPP1. Retrieved from https://www.omim.org/entry/170500
3. ClinicalTrials.gov. (n.d.). Hyperkalemic Periodic Paralysis. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Hyperkalemic+Periodic+Paralysis&term=&cntry=&state=&city=&dist=

Scientific Articles on PubMed

There are various scientific articles available on PubMed that provide information about Hyperkalemic periodic paralysis. These studies aim to help researchers and medical professionals learn more about this rare condition and its causes, symptoms, and treatment options.

Research on Hyperkalemic periodic paralysis has shown that it is associated with genetic mutations in certain genes. These genes are responsible for regulating potassium ions in the muscles, and any changes or mutations in these genes can lead to an increase in potassium ions, causing muscle dysfunction.

Studies have identified several genes associated with Hyperkalemic periodic paralysis, including SCN4A and CACNA1S. These genes play a crucial role in muscle function and have been found to be mutated in people with this condition. The frequency of these gene mutations varies among affected individuals.

Additionally, research has shown that Hyperkalemic periodic paralysis follows an autosomal dominant pattern of inheritance, meaning that it can be passed down from generation to generation within families. However, sporadic cases can also occur due to de novo mutations.

In order to diagnose Hyperkalemic periodic paralysis, various testing methods are available. These include blood tests to measure potassium levels during an attack and genetic testing to identify the specific gene mutations associated with the condition. Muscle function testing may also be conducted to assess muscle strength and function.

ClinicalTrials.gov provides additional information about ongoing research studies and clinical trials related to Hyperkalemic periodic paralysis. This resource can be useful for patients and healthcare professionals seeking more information about the latest advancements in the field.

For further support and information about Hyperkalemic periodic paralysis, patients and their families can contact advocacy organizations such as the Periodic Paralysis Association. These organizations provide resources, support, and guidance for individuals affected by this rare condition.

In conclusion, scientific articles on PubMed offer valuable insights into the genetic and physiological aspects of Hyperkalemic periodic paralysis. These studies help researchers and medical professionals understand the condition better and develop more effective diagnostic and treatment strategies.

References:

• Jurkat-Rott, K., & Lerche, H. (2019). Periodic paralyses. GeneReviews®. University of Washington, Seattle.
• Hyperkalemic periodic paralysis. (n.d.). Retrieved from OMIM database: https://omim.org/entry/170500
• Periodic paralysis. (n.d.). Retrieved from Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/9790/periodic-paralysis

References

• Support Center for Hyperkalemic Periodic Paralysis. Available from: https://www.kppupport.org
• Jurkat-Rott K. et al. Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. Neurotherapeutics. 2007;4(2):216-224.
• OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org
• ClinicalTrials.gov. Available from: https://www.clinicaltrials.gov
• Scientific articles on hyperkalemic periodic paralysis. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov

Additional resources and information can be found at:

• Hyperkalemic Periodic Paralysis Association: https://www.hkpp.org
• Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases/10868/hyperkalemic-periodic-paralysis

Stay up to date with the latest research on hyperkalemic periodic paralysis by visiting:

• ClinicalTrials.gov – for information on ongoing clinical trials related to hyperkalemic periodic paralysis
• PubMed – for scientific articles on the topic

Learn more about other genetic diseases and conditions associated with ion channel genes and potassium ion function:

• GARD – Genetic and Rare Diseases Information Center
• OMIM – Online Mendelian Inheritance in Man

For patient advocacy and support, contact:

• Hyperkalemic Periodic Paralysis Association: https://www.hkpp.org