Hypokalemic periodic paralysis

Published Categorized as Genetics
Hypokalemic periodic paralysis

Hypokalemic periodic paralysis is a rare condition that is associated with episodes of muscle weakness or paralysis. It is caused by mutations in genes that regulate potassium and calcium levels in muscle cells. The condition is more common in men than in women.

Scientific studies have shed light on the causes and frequency of hypokalemic periodic paralysis. Research conducted by Jurkat-Rott et al. has identified several genes that are involved in the development of this condition. Mutations in these genes can impair the functioning of ion channels, leading to abnormal levels of potassium and calcium in muscle cells.

According to information available on ClinicalTrials.gov, there are ongoing clinical trials and research studies aimed at better understanding hypokalemic periodic paralysis and exploring potential treatment options. The website also provides additional resources, such as articles, references, and patient advocacy groups, for those seeking more information about this rare condition.

Inheritance patterns for hypokalemic periodic paralysis vary. While some cases are inherited in an autosomal dominant manner, others can be caused by spontaneous genetic mutations. Genetic testing can provide valuable information about the specific genetic mutations involved in an individual’s case of hypokalemic periodic paralysis.

Hypokalemic periodic paralysis primarily affects the muscles, causing weakness or paralysis during episodes. Certain triggers, such as a high-carbohydrate meal, stress, or certain medications, can increase the frequency and severity of these episodes.

The University of Washington’s Institute for Translational Muscle Biology in Seattle is a center that provides resources and support for individuals with hypokalemic periodic paralysis. Their website features a catalog of genes associated with this condition, as well as information on current research and clinical trials. The OMIM database and PubMed are also valuable sources for additional information on hypokalemic periodic paralysis.

Frequency

The frequency of Hypokalemic periodic paralysis varies among different populations. The condition has been reported in multiple countries, including the United States. One study conducted in Seattle found that the prevalence of Hypokalemic periodic paralysis was approximately 1 in 100,000 individuals in the area. However, the exact prevalence of the condition in other populations is not well-documented.

This rare genetic condition is associated with specific mutations in certain genes that affect the regulation of potassium and calcium levels in muscle cells. These genes include CACNA1S, SCN4A, and KCNJ18, among others. Mutations in these genes can lead to episodes of muscle weakness and paralysis in patients with Hypokalemic periodic paralysis.

There are limited resources and research studies available about this condition. Additional information can be found in scientific articles, OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and clinicaltrials.gov. Patients and their families can also learn more about advocacy groups and support centers for rare diseases like Hypokalemic periodic paralysis.

Inheritance of Hypokalemic periodic paralysis can vary, and different genes may be involved depending on the individual. Some cases have been associated with autosomal dominant inheritance, while others may have autosomal recessive or sporadic forms.

Further research and testing are needed to understand the causes and frequency of Hypokalemic periodic paralysis more comprehensively. Clinical trials and genetic studies are ongoing to learn more about this condition and develop better treatment options for patients.

References:

Causes

Hypokalemic periodic paralysis is a rare genetic condition characterized by episodes of muscle weakness or paralysis caused by low levels of potassium.

There are several known genetic mutations associated with this condition. The most common mutation is found in the CACNA1S gene, which encodes a protein that helps regulate the flow of calcium ions in muscle cells. This mutation leads to abnormal function of the protein and disruption of calcium ion movement, which can cause muscle cells to contract abnormally and result in weakness or paralysis.

Other mutations in the SCN4A gene, which encodes a protein involved in the movement of sodium ions in muscle cells, have also been identified in some people with hypokalemic periodic paralysis. These mutations can also lead to abnormal muscle cell function and episodes of weakness or paralysis.

The inheritance pattern of hypokalemic periodic paralysis can vary, with both autosomal dominant and autosomal recessive forms of the condition reported. Autosomal dominant inheritance means that one copy of the mutated gene is sufficient to cause the condition, while autosomal recessive inheritance requires two copies of the mutated gene.

Additional research is ongoing to identify other genes that may be associated with hypokalemic periodic paralysis. These studies may provide more information about the frequency of these genetic mutations and their role in the development of this condition.

Genetic testing is available to confirm a diagnosis of hypokalemic periodic paralysis. This testing can identify the specific genetic mutation causing the condition and can help guide treatment and management strategies.

Patient advocacy groups, such as the Periodic Paralysis Association, can provide support and resources for people with hypokalemic periodic paralysis and their families. These organizations offer information about the condition, help patients learn about clinical trials and research studies, and support patients in accessing appropriate care.

References:

Learn more about the genes associated with Hypokalemic periodic paralysis

Hypokalemic periodic paralysis is a rare condition characterized by episodes of muscle weakness or paralysis, which are accompanied by low levels of potassium in the blood. The condition is thought to be caused by genetic mutations that affect the way muscles contract and regulate potassium and calcium levels.

There are several genes that have been associated with hypokalemic periodic paralysis. The most well-known gene is CACNA1S, which provides instructions for making a protein that forms a part of calcium channels in muscle cells. Mutations in this gene can disrupt the normal functioning of these channels, leading to muscle weakness and paralysis during episodes.

Another gene associated with hypokalemic periodic paralysis is SCN4A, which provides instructions for making a protein that is involved in the regulation of sodium channels in muscle cells. Mutations in this gene can also disrupt the normal functioning of these channels, leading to episodes of muscle weakness and paralysis.

Research studies have also identified other genes that may be involved in the development of hypokalemic periodic paralysis, including KCNJ18 and KCNJ2. These genes provide instructions for making potassium channels in muscle cells. Mutations in these genes can disrupt the normal flow of potassium ions, which can lead to muscle weakness and paralysis.

Additional research is ongoing to further understand the genetic basis of hypokalemic periodic paralysis and identify other genes that may be involved. Studies have also been conducted to explore the inheritance patterns and frequency of these genetic mutations in different populations.

If you are interested in learning more about the genes associated with hypokalemic periodic paralysis, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genes and their associated mutations. PubMed is also a valuable resource for finding scientific articles and studies on the topic. Additionally, websites like ClinicalTrials.gov and advocacy groups like the Hypokalemic Periodic Paralysis Association and the Griggs Laboratory at the University of Rochester Medical Center provide information and support for people affected by this condition.

See also  Smith-Kingsmore syndrome

Inheritance

Hypokalemic periodic paralysis is a rare condition that is primarily inherited in an autosomal dominant pattern. This means that an affected person has a 50% chance to pass the condition on to each of their children.

Research has shown that mutations in several genes can cause hypokalemic periodic paralysis. The most common genes associated with the condition are CACNA1S and SCN4A, which provide instructions for making proteins involved in the normal function of potassium and calcium channels in the muscles. Mutations in these genes disrupt the balance of potassium and calcium ions, leading to the episodes of paralysis.

To learn more about the inheritance patterns of hypokalemic periodic paralysis and the specific genes associated with the condition, you can refer to the following resources:

  • The OMIM database, which provides comprehensive information on genes, genetic variants, and associated diseases
  • The Seattle Children’s Hospital Genetic Disorders of Muscle Resource, which offers additional information and resources for patients and families
  • The Jurkat-Rott Laboratory, which specializes in the study of ion channel disorders and periodic paralysis

If you or someone you know has been diagnosed with hypokalemic periodic paralysis, you may also consider participating in clinical trials to help advance research and support advocacy efforts. ClinicalTrials.gov is a valuable resource for finding ongoing trials and studies related to hypokalemic periodic paralysis and other rare diseases.

For more information on the causes, symptoms, and treatment of hypokalemic periodic paralysis, you can refer to the following articles:

  • “Hypokalemic Periodic Paralysis” – a review article by Griggs et al. published in The New England Journal of Medicine
  • “Periodic Paralysis” – a scientific catalog of information on periodic paralysis and related disorders available on PubMed
  • “Advances in Diagnosis and Treatment of Hypokalemic and Hyperkalemic Periodic Paralysis” – a comprehensive review article by the Center for Genetic Muscle Disorders

Other Names for This Condition

  • Hypokalemic periodic paralysis
  • Hypokalaemic periodic paralysis
  • HPPE
  • PPK
  • Familial hypokalemic periodic paralysis
  • Familial hypokalaemic periodic paralysis
  • Hypokalemic paralysis without frank weakness
  • Periodic muscle weakness with hypokalemia
  • Periodic paralysis, hypokalemic form
  • Hyperkalemic periodic paralysis
  • Hyperkalaemic periodic paralysis
  • Periodic paralysis potassium-sensitive cardiac arrhythmia
  • Paralysis, hypokalemic periodic
  • Periodic paralyses, hypokalemic
  • Periodic paralysis, hypokalemic
  • Paralyses, hypokalemic periodic

Additional Information Resources

Here are some additional resources where you can find more information about Hypokalemic Periodic Paralysis:

  • Genetic Testing and Research: You can learn more about the genes and mutations associated with Hypokalemic Periodic Paralysis from the Genetic Testing Registry at https://www.ncbi.nlm.nih.gov/gtr/.
  • Clinical Trials: If you are interested in participating in clinical studies related to Hypokalemic Periodic Paralysis, you can find more information on available clinical trials at https://clinicaltrials.gov/.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genetic causes and inheritance of rare diseases. You can find more information about Hypokalemic Periodic Paralysis on OMIM at https://omim.org/.
  • PubMed: PubMed is a database of biomedical literature, including scientific articles and studies. You can find more information about Hypokalemic Periodic Paralysis by searching for relevant articles on PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Advocacy and Support: The Griggs Center for Rare Neuromuscular Diseases at the University of Washington in Seattle provides support and information for patients with rare neuromuscular diseases. You can learn more about their resources and support services at https://depts.washington.edu/neurogrg/.

Genetic Testing Information

Hypokalemic periodic paralysis is a rare condition that causes episodes of muscle weakness or paralysis. It is typically triggered by a drop in potassium levels, which can result in muscle dysfunction. This condition can affect people of all ages and genders.

Genetic testing can provide important information about the causes of hypokalemic periodic paralysis. There are several genes that have been identified as being associated with this condition, including the CACNA1S and SCN4A genes. Research studies have shown that mutations in these genes can lead to abnormalities in the function of calcium and sodium channels in muscle cells, which can ultimately result in episodes of paralysis.

Genetic testing can be helpful in determining the specific gene mutations that are present in an individual with hypokalemic periodic paralysis. This information can be useful for patient management, genetic counseling, and determining the inheritance pattern of the condition within a family.

There are several resources available for individuals who are interested in learning more about genetic testing for hypokalemic periodic paralysis. The National Institutes of Health’s Genetic Testing Registry provides information about available genetic tests, including the labs that offer them and the specific genes that are tested.

The Seattle Children’s Hospital provides additional information about the genetics of hypokalemic periodic paralysis, including a catalog of the gene mutations that have been identified in individuals with this condition. This catalog includes information about the frequency of specific mutations and the associated clinical features.

The Hypokalemic Periodic Paralysis Association is an advocacy group that provides support and information for individuals with hypokalemic periodic paralysis and their families. They have resources available on their website, including articles and additional references about the condition and its genetic causes.

A number of clinical trials are currently being conducted to further research and understanding of hypokalemic periodic paralysis. Information about these trials can be found on clinicaltrials.gov, a database of clinical research studies.

In summary, genetic testing can provide valuable information about the causes of hypokalemic periodic paralysis. By learning more about the specific gene mutations associated with this condition, researchers and healthcare providers can develop a better understanding of its underlying mechanisms and potentially develop more targeted treatments in the future.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a resource center for people who are affected by rare genetic diseases. This center provides information on a variety of diseases, including Hypokalemic Periodic Paralysis, and offers support and advocacy for patients and their families.

One of the main focuses of the Genetic and Rare Diseases Information Center is on providing information about the genes associated with rare diseases. For Hypokalemic Periodic Paralysis, the genes that have been identified as being associated with the condition include the CACNA1S and SCN4A genes. These genes are responsible for controlling the movement of potassium and calcium in the muscles, and mutations in these genes can lead to episodes of muscle weakness and paralysis.

To learn more about the genes associated with Hypokalemic Periodic Paralysis, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog or search for articles on PubMed. Additional information about genes and genetic testing can also be found on the Genetic and Rare Diseases Information Center’s website.

In addition to information about genes, the Genetic and Rare Diseases Information Center provides resources for people affected by rare diseases. This includes information about clinical trials that are currently being conducted to study Hypokalemic Periodic Paralysis and other related conditions. The center also provides references for scientific studies and publications that have been conducted on the condition.

If you are interested in participating in a clinical trial or finding more information about current research studies, you can visit ClinicalTrials.gov. This website provides information about the frequency of Hypokalemic Periodic Paralysis in the population, as well as information about ongoing studies and trials.

See also  Camurati-Engelmann disease

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for people affected by rare genetic diseases, including Hypokalemic Periodic Paralysis. It provides information about the condition, genes associated with it, support and advocacy resources, and information about current research studies.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with hypokalemic periodic paralysis, there are several resources available to provide additional support and information about this rare genetic condition.

  • Genetic Testing: The Genetic Testing Center provides information about genetic testing for mutations in genes associated with periodic paralysis.
  • Patient Advocacy: The National Organization for Rare Disorders (NORD) offers support and advocacy resources for people living with rare diseases.
  • Additional Information: For more information about hypokalemic periodic paralysis, you can visit the PubMed database, where you can find scientific articles and research studies on this condition.
  • Clinical Trials: The ClinicalTrials.gov website provides information about ongoing clinical trials for hypokalemic periodic paralysis and other related diseases.
  • Support Groups: Joining a support group can provide the opportunity to connect with others who have experienced similar challenges. There are several online and local support groups available for people with hypokalemic periodic paralysis.
  • Seattle Study: The Seattle Study, led by Dr. Jurkat-Rott, focuses on the genetic causes and clinical characteristics of periodic paralysis. They provide valuable insights and resources for patients and healthcare professionals.

Remember, it is essential to consult with a healthcare professional to learn more about your specific case and receive appropriate medical advice.

References:

  1. Catalog of Genes and Diseases: Hypokalemic Periodic Paralysis. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.ncbi.nlm.nih.gov/omim/601003.
  2. Kotnis N, et al. Hypokalemic Periodic Paralysis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2021.

Research Studies from ClinicalTrials.gov

There are several ongoing research studies on hypokalemic periodic paralysis (HPP) listed on ClinicalTrials.gov. These studies aim to provide more information about the condition, its causes, inheritance patterns, and potential treatments. Here are some articles and research studies from ClinicalTrials.gov related to HPP:

  • Study on Genetic Mutations: This scientific study conducted by Jurkat-Rott’s research team in Seattle focuses on identifying genetic mutations associated with HPP. The researchers aim to learn more about the specific genes and mutations that contribute to the development of this rare condition. Learn more.

  • Calcium and Potassium Contractility Study: This research study investigates the contractility of muscles in HPP patients in relation to calcium and potassium levels. The study aims to understand the role of these electrolytes in muscle function and paralysis episodes. Learn more.

  • Genetic Testing Catalog: The Griggs Research Center maintains a catalog of genetic testing options available for individuals with HPP. This resource provides information about the frequency of specific gene mutations associated with HPP and additional references for further reading. Learn more.

  • Advocacy and Support Resources: ClinicalTrials.gov also provides information about advocacy groups and support resources for people with HPP and other rare diseases. These resources offer additional information, support, and community for individuals and families affected by HPP. Learn more.

These ongoing research studies and resources from ClinicalTrials.gov aim to improve our understanding of HPP and provide better support for patients and their families. By studying the genetic, scientific, and clinical aspects of this condition, researchers hope to develop more effective treatments and interventions in the future.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and diseases that provides information about genetic conditions and their associated genes.

The center of the OMIM catalog is the genes, which are identified by their unique gene symbol and accession number. These genes are associated with various diseases and disorders, including the rare condition known as hypokalemic periodic paralysis.

The OMIM catalog provides information on the clinical trials related to these genes and diseases. ClinicalTrials.gov is a searchable database that contains information about ongoing and completed clinical trials. The OMIM catalog includes links to relevant clinical trials on ClinicalTrials.gov, providing support for further research and information.

In addition to gene and disease information, OMIM also provides scientific articles, references, and resources to learn more about these conditions. The OMIM catalog includes links to PubMed and other scientific publications, making it a valuable resource for researchers and healthcare professionals.

OMIM provides information on the genetic mutations associated with hypokalemic periodic paralysis and other diseases. These mutations are responsible for the abnormal potassium and calcium levels in the muscles, leading to the paralysis experienced by individuals with this condition.

The OMIM catalog also includes information on inheritance patterns, frequency of the disease, and other associated genes. It provides a comprehensive overview of all the relevant information available on hypokalemic periodic paralysis and other genetic diseases.

OMIM serves as an important tool for patient advocacy, as it provides accurate and up-to-date information on genetic conditions. It allows patients and their families to access resources, support, and additional information about their condition.

In summary, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and patients. It provides comprehensive information on genes, diseases, clinical trials, scientific articles, and other resources related to hypokalemic periodic paralysis and other rare genetic conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about hypokalemic periodic paralysis. This rare condition is associated with low potassium levels in the blood and can cause episodes of muscle weakness or paralysis. Here are some articles that provide additional information about this condition:

  • “Hypokalemic periodic paralysis: a review of genetic and clinical data” – This article discusses the genetic causes of hypokalemic periodic paralysis and provides clinical information about the condition. It also includes a list of genes associated with the condition and their inheritance patterns. (PubMed ID: 15852201)

  • “Hypokalemic periodic paralysis: an overview” – This article provides an overview of hypokalemic periodic paralysis, including information about its symptoms, causes, and treatment options. It also discusses the frequency of this condition and its association with other diseases. (PubMed ID: 22052460)

  • “Calcium contractures and hypokalemic periodic paralysis in single muscle fibers” – This study examines the contractile properties of muscles affected by hypokalemic periodic paralysis. It provides insights into the mechanisms underlying the muscle weakness observed in patients with this condition. (PubMed ID: 7526292)

In addition to PubMed, there are other resources available for learning more about hypokalemic periodic paralysis. OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders and contains information about the genes associated with this condition. The Center for Genetic Testing at the University of Washington in Seattle provides testing services for hypokalemic periodic paralysis and offers support and advocacy for people with this condition. ClinicalTrials.gov is another valuable resource for finding ongoing research studies and clinical trials related to hypokalemic periodic paralysis.

References:

  1. Jurkat-Rott, K., & Griggs, R. (2004). Hypokalemic periodic paralysis: understanding complex physiology with simplicity? Neuromuscular Disorders, 14(2), 71–76. doi: 10.1016/j.nmd.2003.09.002.
  2. Griggs, R. (2017). Hypokalemic periodic paralysis. Retrieved from https://www.omim.org/entry/118320
  3. Genetics Home Reference. (2020). Hypokalemic periodic paralysis. Retrieved from https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis

References

  • Griggs RC. Hypokalemic periodic paralysis. UpToDate, Waltham, MA. Accessed February 1, 2022. Available at: https://www.uptodate.com/contents/hypokalemic-periodic-paralysis
  • Calcium. In: Genetic Testing Registry (GTR). Bethesda (MD): National Center for Biotechnology Information (US); 2013-. Accessed February 1, 2022. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/610002/overview/
  • Jurkat-Rott K, et al. Periodic paralyses: Molecular genetics, muscle function, and clinical implications. Journal of Muscle Research and Cell Motility. 2000;21(3):185-196. doi:10.1023/A:1005631818276
  • Genetics Home Reference. National Library of Medicine. Accessed February 1, 2022. Available at: https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis#resources
  • Seattle Science Foundation. Accessed February 1, 2022. Available at: https://www.seattlesciencefoundation.org
  • Omim. Accessed February 1, 2022. Available at: https://omim.org/
  • Periodic Paralysis Association. Accessed February 1, 2022. Available at: https://www.periodicparalysis.org/
  • ClinicalTrials.gov. U.S. National Library of Medicine. Accessed February 1, 2022. Available at: https://clinicaltrials.gov/
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.