Malignant hyperthermia (MH) is a rare genetic condition that causes a potentially life-threatening reaction to certain drugs used during general anesthesia. Many individuals with MH are otherwise healthy and may not even be aware that they carry the genetic mutation that causes the condition. However, if a person with MH is exposed to triggering substances, their body’s response can be severe and can lead to a dangerous increase in body temperature.

Studies support the association of MH with mutations in several genes, including the RYR1 gene, which encodes a calcium channel in skeletal muscles. This channel plays a critical role in muscle contraction and relaxation. When an individual with MH is exposed to certain drugs or gases, their calcium channels malfunction, leading to uncontrolled muscle rigidity, increased heart rate, and a rapid increase in body temperature.

While MH is rare, with a frequency of less than 1 in 100,000 people, it is important for healthcare providers to be aware of this condition and take appropriate precautions during anesthesia. The Malignant Hyperthermia Association of the United States (MHAUS) is a valuable resource for healthcare professionals, providing information, support, and additional resources for understanding and managing MH.

ClinicalTrials.gov provides a registry of research studies on MH, including current clinical trials and articles on the subject. These resources can help medical professionals stay informed about the latest research and treatment options for individuals with this condition. In addition, the Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic inheritance, genes involved, and associated clinical features of MH.

Given the potentially life-threatening nature of MH, advocacy and awareness are crucial. Organizations such as MHAUS work tirelessly to educate the public, healthcare providers, and patients about the condition and promote research for better understanding. Through these efforts, more individuals can learn about MH, its causes, and available resources for testing, diagnosis, and treatment.

Frequency

Malignant hyperthermia (MH) is a rare genetic condition associated with skeletal muscle hyperthermia. It is estimated to occur in about 1 in every 5,000 to 50,000 individuals. MH is usually triggered by certain medications used in anesthesia, including volatile anesthetic gases and the depolarizing muscle relaxant succinylcholine.

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The condition is caused by mutations in several different genes, including the RYR1 and CACNA1S genes, which encode proteins involved in calcium signaling in muscle cells. These mutations lead to abnormal release of calcium from the sarcoplasmic reticulum, resulting in muscle rigidity and increased body temperature during anesthesia.

In many cases, individuals with MH have a family history of the condition. However, MH can also occur sporadically, without any family history of the condition. Genetic testing is available to confirm a diagnosis of MH, and the Malignant Hyperthermia Association of the United States (MHAUS) provides resources and support for individuals and families affected by this rare condition.

Research into the causes and genetic basis of MH is ongoing. The Malignant Hyperthermia Research Center at the University of Washington in Seattle is a leading center for research on MH, and the Malignant Hyperthermia Association of the United States (MHAUS) funds scientific studies and clinical trials related to MH.

For more information about Malignant Hyperthermia, including additional resources and ongoing clinical trials, visit websites such as PubMed, OMIM, ClinicalTrials.gov, and the Malignant Hyperthermia Association of the United States (MHAUS) website. There are also many scientific articles and references available on this topic that can be found through online catalogs and research databases.

Causes

Malignant hyperthermia (MH) is a rare genetic condition that affects the way the body responds to certain drugs used during anesthesia. It is a central core disease with skeletal muscle involvement and an increased frequency of specific mutations in the ryanodine receptor 1 (RYR1) gene. MH is often triggered by exposure to volatile anesthetics and/or depolarizing muscle relaxants.

The condition is inherited in an autosomal dominant manner, which means it can be passed down from an affected person to their children. The RYR1 gene mutations are the most commonly identified genetic causes of MH, accounting for about 50-70% of cases. Other genes, such as CACNA1S, STAC3, and others, have also been associated with MH.

In most cases, a person with MH will not experience any symptoms until they are exposed to triggering agents. The exact mechanism by which these triggering agents cause the symptoms of MH is not fully understood, but it is thought to involve an abnormal release of calcium from the sarcoplasmic reticulum in skeletal muscles. This abnormal release of calcium leads to muscle rigidity and an increased temperature.

Research has shown that MH is associated with an increased heart rate, elevated body temperature, and an increased production of metabolic gases, such as carbon dioxide and lactate, during anesthesia. These changes can be life-threatening if not treated promptly.

Genetic testing can be used to confirm a diagnosis of MH. This can be done through targeted gene sequencing or through whole exome sequencing, which analyzes all protein-coding genes in an individual’s genome. In some cases, muscle biopsy may be necessary to identify the specific gene mutations associated with MH.

Support and advocacy groups, such as the Malignant Hyperthermia Association of the United States (MHAUS) and the North American Malignant Hyperthermia Registry (NAMHR), provide information and resources for individuals with MH and their families. These organizations offer support, educational materials, and resources for finding healthcare providers with expertise in treating MH.

Additional information about the genetic causes of MH can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. Scientific articles on the topic can be found through PubMed, and ongoing clinical trials related to MH can be found on ClinicalTrials.gov.

Given the rare nature of MH, more research is needed to better understand its causes and develop new treatments. Ongoing studies are investigating the role of other genes and genetic mutations in the development of MH, as well as potential therapies to prevent and treat the condition.

Learn more about the genes associated with Malignant hyperthermia

Malignant hyperthermia (MH) is a rare genetic condition that causes a potentially life-threatening reaction to certain gases used during general anesthesia. It is characterized by the rapid increase in body temperature and severe muscle contractions (rigidity).

Research has identified several genes associated with Malignant hyperthermia. Mutations in these genes can result in an abnormal regulation of calcium in skeletal muscle cells, leading to the development of MH.

See also  Hyperparathyroidism-jaw tumor syndrome

One of the main genes associated with Malignant hyperthermia is the RYR1 gene, which provides instructions for making a protein called the ryanodine receptor. This receptor plays a crucial role in regulating calcium release in skeletal muscles. Mutations in the RYR1 gene can cause an exaggerated response to certain triggers, resulting in MH symptoms.

Another gene associated with Malignant hyperthermia is the CACNA1S gene, which provides instructions for making a protein that forms a calcium channel in muscle cells. Mutations in this gene can also lead to an abnormal release of calcium in response to certain triggers, contributing to MH development.

To learn more about the genes associated with Malignant hyperthermia, you can refer to various resources including scientific articles, research studies, and genetic databases. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases and associated genes, including those related to MH. The Seattle Malignant Hyperthermia Genetic Testing Center and the Malignant Hyperthermia Association of the United States provide information and support for individuals with MH and their families.

In addition, clinicaltrials.gov may have information about ongoing research studies and clinical trials related to MH and its associated genes. These resources can provide valuable insights into the genetic causes and mechanisms of Malignant hyperthermia, as well as potential treatment options and management strategies.

It is important to note that MH is a complex condition with multiple genetic and environmental factors contributing to its development. Genetic testing, including targeted sequencing of the RYR1 and CACNA1S genes, can be performed to confirm a diagnosis in individuals suspected of having MH or to provide genetic counseling for family members at risk.

By learning more about the genes associated with Malignant hyperthermia, we can better understand the underlying causes of this condition and develop strategies to prevent and manage it effectively.

Inheritance

Malignant hyperthermia (MH) is a rare genetic disorder that is inherited in an autosomal dominant manner. This means that affected individuals have a 50% chance of passing the genetic mutation on to each of their children.

There are several genes that have been identified as being associated with MH, including the RYR1 gene and the CACNA1S gene. Mutations in these genes can cause dysfunction in the calcium channel receptors that regulate muscle contractions. This dysfunction leads to uncontrolled release of calcium from the sarcoplasmic reticulum, resulting in increased muscle contraction and rigidity.

Studies have shown that the frequency of MH-causing genetic mutations varies among different populations. For example, in the Caucasian population, mutations in the RYR1 gene account for the majority of MH cases, while in the Japanese population, mutations in the CACNA1S gene are more common.

In many cases, the genetic mutation associated with MH is inherited from one parent. However, there are also cases where the mutation occurs spontaneously, without any family history of the condition. This is known as a de novo mutation.

It is important for individuals with a family history of MH or those who have experienced susceptibility to the condition to undergo genetic testing. This can help identify the specific genetic mutation causing the condition and provide valuable information about the inheritance pattern within the family.

In addition to genetic testing, there are resources available for individuals and families affected by MH. The Malignant Hyperthermia Association of the United States (MHAUS) provides support and advocacy for patients and families, as well as information about the condition and its inheritance. The Malignant Hyperthermia Research Registry (MHRR) collects and catalogs information about individuals with MH and their genetic mutations, which can aid in further research and understanding of the condition.

Further information about the genetics of MH can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides details about genes, mutations, and associated diseases. Research articles can also be found on PubMed, a database of scientific literature.

In conclusion, Malignant hyperthermia is a rare genetic condition with a known inheritance pattern. Genetic mutations in certain genes can cause the condition, and the specific genetic mutation can vary among different populations. Genetic testing and resources provided by organizations such as MHAUS and OMIM can help individuals and families affected by MH to learn more about the condition and its inheritance.

Other Names for This Condition

Other names for malignant hyperthermia include:

  • Malignant hyperthermia susceptibility
  • Malignant hyperthermia of anesthesia
  • Malignant hyperpyrexia
  • Hypermetabolic syndrome due to anesthesia
  • MHS

Malignant hyperthermia is a rare genetic condition that is caused by mutations in certain genes. These mutations affect the function of a specific calcium channel in skeletal muscle cells. When a person with malignant hyperthermia is exposed to certain triggering factors, such as certain anesthetic gases or a high body temperature, they may experience a severe reaction.

These reactions can include muscle rigidity, increased body temperature, and other symptoms. If not treated promptly, malignant hyperthermia can be life-threatening.

More information about the genetic causes and inheritance of malignant hyperthermia can be found in the OMIM database, which is a catalog of human genes and genetic disorders.

The Malignant Hyperthermia Association of the United States is a resource center for individuals with malignant hyperthermia and their families. They provide support, information, and advocacy for those affected by the condition.

ClinicalTrials.gov provides additional information about research studies and clinical trials related to malignant hyperthermia. This can be a valuable resource for individuals who are interested in participating in or learning more about current research on the condition.

References:

  1. Brandom BW. Malignant Hyperthermia. Updated 2020 May 12. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK518992/.
  2. Jungbluth H, Zhou H. Malignant Hyperthermia. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482241/.

Additional Information Resources

Given the rarity of malignant hyperthermia (MH), it is important to have access to reliable resources for further information and support. The following resources can provide valuable information about the condition:

  • Seattle Children’s Hospital MH Program: The Seattle Children’s Hospital has an MH Program that offers clinical services, genetic testing, and counseling for individuals and families affected by MH. They also conduct research on MH and provide educational resources for healthcare professionals.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genetic disorders. It covers various aspects of MH, including the genes associated with the condition, inheritance patterns, and clinical features.
  • PubMed: PubMed is a searchable database of scientific articles. It contains a vast amount of literature on MH, including research papers, case reports, and review articles.
  • Malignant Hyperthermia Association of the United States (MHAUS): MHAUS is a patient advocacy organization dedicated to providing support and education to individuals and families affected by MH. They have a wealth of information on MH, including resources for patients, doctors, and researchers.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted around the world. It provides information on ongoing and completed trials related to MH, including those investigating potential treatments and the underlying causes of the condition.
See also  Romano-Ward syndrome

It is important to note that there are many factors that contribute to the development of MH, including genetic mutations in certain genes, such as the RYR1 and CACNA1S genes. Genetic testing can help identify these mutations and determine the inheritance pattern in affected individuals and families.

For more information on MH and related topics, it is recommended to consult the resources mentioned above and to reach out to specialized centers and healthcare professionals with expertise in this rare condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Malignant Hyperthermia (MH). These tests detect mutations in the genes associated with the condition and can provide valuable information about an individual’s genetic makeup.

Several studies, such as those conducted by Jungbluth et al. and Rosenberg et al., have identified specific genes and mutations that cause MH. These genetic abnormalities typically affect the calcium channel proteins within skeletal muscle cells, leading to increased sensitivity to certain triggering factors.

In order to learn more about the genetic basis of MH, genetic testing is often recommended for individuals with suspected or confirmed cases of the condition. Testing can be performed through various genetic testing laboratories, and it is advisable to consult with a healthcare professional or genetic counselor to discuss the best options available.

ClinicalTrials.gov provides information about ongoing research studies related to MH, including trials investigating new treatment approaches and diagnostic methods. Additionally, the Malignant Hyperthermia Association (MHAUS) and other advocacy organizations serve as valuable resources for information and support.

The Online Mendelian Inheritance in Man (OMIM) database and PubMed contain scientific articles and references on MH, providing further information on the genetic basis and inheritance patterns of the condition.

Given the rare nature of MH, genetic testing and research play a critical role in understanding the condition, its causes, and potential treatments. Genetic testing can help identify affected individuals and guide treatment strategies to minimize the risk of MH episodes occurring.

Genetic Testing Resources
Resource Description
Malignant Hyperthermia Association of the United States (MHAUS) Provides information, support, and advocacy for individuals and families affected by MH.
Online Mendelian Inheritance in Man (OMIM) A comprehensive catalog of genes and genetic diseases, including MH.
PubMed A database of scientific articles and research studies on various topics, including MH.
ClinicalTrials.gov Lists ongoing clinical trials related to MH, including genetic testing and treatment studies.
Malignant Hyperthermia Association of the United States (MHAUS) Registry A registry that collects data on MH cases to facilitate research and improve patient care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases. One of the conditions that GARD provides information on is malignant hyperthermia (MH), which is a genetic condition characterized by a severe reaction to certain medications used during general anesthesia.

Malignant hyperthermia is an inherited condition, which means it can be passed down through families. It is primarily caused by mutations in the RYR1 gene, although mutations in other genes have also been associated with the condition. The inheritance pattern of malignant hyperthermia is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

The main symptom of malignant hyperthermia is a rapid increase in body temperature, often reaching dangerously high levels. Other symptoms may include muscle rigidity, increased heart rate, rapid breathing, and an abnormal heart rhythm. Malignant hyperthermia can sometimes be triggered by certain medications or substances, including volatile anesthetic gases and the muscle relaxant succinylcholine.

The Malignant Hyperthermia Association of the United States (MHAUS) maintains a registry of individuals affected by malignant hyperthermia. The registry collects information about cases of malignant hyperthermia from individuals and healthcare professionals, and is a valuable resource for additional information about the condition. There are also resources available on the MHAUS website, including information about testing for genes associated with malignant hyperthermia.

Research studies have shown that mutations in the RYR1 gene are responsible for more than 50% of malignant hyperthermia cases. Other genes, such as CACNA1S and STAC3, have also been associated with the condition. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about these genes and their associated diseases.

In addition to GARD and MHAUS, there are other resources available for individuals and families affected by malignant hyperthermia. Scientific articles and studies can be found on PubMed, a database of scientific literature. The Seattle Children’s Hospital publishes a comprehensive catalog of genes associated with genetic diseases, including malignant hyperthermia.

It is important for individuals with malignant hyperthermia to receive appropriate medical care. Treatment for a malignant hyperthermia crisis involves stopping the triggering medication, administering medications to reverse muscle rigidity and reduce body temperature, and providing support for the heart and other organs. Learning about the condition and its management can help individuals and families make informed decisions about their healthcare.

The Genetic and Rare Diseases Information Center (GARD) and the resources mentioned above can provide more information about malignant hyperthermia, including references to scientific articles and studies, advocacy organizations, and ongoing clinical trials. GARD is a valuable resource for individuals seeking information about rare genetic diseases.

Patient Support and Advocacy Resources

There are many resources available to support patients and their families affected by Malignant Hyperthermia. These resources provide information about the condition, its causes, and how to manage and cope with the symptoms.

  • Malignant Hyperthermia Association of the United States (MHAUS) – Provides comprehensive information about MH, including its genetic causes and inheritance patterns. The organization also offers support to affected individuals and their families, including educational materials, local support groups, and an online registry for patients.
  • Malignant Hyperthermia Registry of the European Malignant Hyperthermia Group (EMHG) – A registry that collects and stores information about MH cases within Europe. This resource facilitates research and provides a central database for clinical studies and genetic testing.
  • Genetic Testing – Genetic testing can be performed to identify specific mutations in genes associated with MH, such as the RYR1 and CACNA1S genes. Testing can be done through specialized laboratories or with the assistance of genetic counselors.
  • Research Studies and Clinical Trials – Participating in research studies and clinical trials is crucial for advancing knowledge about MH and finding new treatments. Resources like ClinicalTrials.gov and PubMed provide information about ongoing studies and latest research articles on MH.
  • Additional Resources – Other resources that may be helpful include OMIM (Online Mendelian Inheritance in Man), which provides detailed information about genes and genetic diseases, and the University of Washington’s Center for Mendelian Genomics, which offers genetic testing and counseling services for rare genetic conditions, including MH.
See also  MVK gene

By utilizing these resources, patients and their families can gain a better understanding of the condition and find support from others who have gone through similar experiences. It is important to stay informed and connected to the MH community for the latest information and advancements in treatment and care.

Research Studies from ClinicalTrials.gov

Malignant hyperthermia is a rare genetic condition characterized by an increased body temperature and muscle rigidity. It is caused by mutations in genes that code for certain calcium channel proteins in skeletal muscles. This condition can be triggered by certain gases used during anesthesia, such as halothane and succinylcholine.

Research studies conducted by the ClinicalTrials.gov have provided valuable insights into the causes and treatment of malignant hyperthermia. These studies have explored the underlying genetic factors, inheritance patterns, and frequency of the condition in different populations.

One such study conducted by Rosenberg and colleagues at the Seattle Malignant Hyperthermia Center investigated the frequency of malignant hyperthermia and associated genes in individuals with the condition. The study found that mutations in the RYR1 gene were the most common cause of malignant hyperthermia and identified additional genes that may also contribute to the condition.

Another study by Jungbluth and colleagues focused on the central role of calcium in the pathogenesis of malignant hyperthermia. The researchers investigated the function of various calcium channels and their involvement in the development of the condition. This study provided important insights into the biochemical mechanisms underlying malignant hyperthermia.

These research studies have also examined the clinical features and management of malignant hyperthermia. They have explored the symptoms, complications, and treatment options for individuals with the condition. The studies have provided evidence-based recommendations for the diagnosis, prevention, and management of malignant hyperthermia in clinical practice.

ClinicalTrials.gov offers resources and support for individuals participating in clinical trials related to malignant hyperthermia. The website provides information about ongoing studies, including their names, objectives, and locations. It also provides articles and references to scientific publications related to malignant hyperthermia, allowing individuals to stay updated on the latest research findings.

In conclusion, research studies conducted by ClinicalTrials.gov have significantly contributed to our understanding of malignant hyperthermia. These studies have provided valuable information about the genetic causes, clinical features, and management of the condition, leading to improved patient care and outcomes. They have also identified additional genes and biochemical mechanisms involved in malignant hyperthermia, paving the way for further research and advancement in the field.

Catalog of Genes and Diseases from OMIM

The catalog from OMIM (Online Mendelian Inheritance in Man) provides information about genes and genetic diseases. OMIM is a central resource for information about inherited conditions and supports research and advocacy. The catalog contains names, descriptions, and inheritance patterns of genes and associated diseases, including Malignant Hyperthermia.

Malignant Hyperthermia is a rare genetic condition that causes increased body temperature and muscle rigidity, usually triggered by certain gases used during anesthesia. This condition is associated with mutations in several genes, including the RYR1 gene and the CACNA1S gene, which encode proteins involved in calcium channel function in muscle cells.

OMIM provides detailed information about the genes associated with Malignant Hyperthermia, including their scientific names, associated diseases, and inheritance patterns. The catalog also includes additional resources, such as articles and references from PubMed, clinical trial studies from clinicaltrials.gov, and patient advocacy and support groups.

While Malignant Hyperthermia is a rare condition, it is important for medical professionals and individuals to learn about its causes, symptoms, and available testing options. The OMIM catalog can provide valuable information and support for individuals affected by this condition.

References:

  • Jungbluth, H. (2007). Malignant hyperthermia and other heat-related disorders. Neurotherapeutics, 4(1), 132-138.
  • OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://omim.org
  • Seattle Malignant Hyperthermia Hotline. (n.d.). Retrieved from https://seattlechildrens.org

This catalog from OMIM provides a comprehensive resource for information about the genes and genetic diseases, including Malignant Hyperthermia. It is a valuable tool for researchers, healthcare professionals, and individuals seeking more information about this rare condition and its associated genes.

Scientific Articles on PubMed

The field of research on malignant hyperthermia (MH), a rare genetic condition associated with an increased body temperature and skeletal muscle diseases, has grown significantly in recent years. This has led to an abundance of scientific articles on PubMed, a central resource for scientific research.

Research studies have provided additional information on the causes and frequency of MH. While MH is a rare condition, studies have shown that there are more cases than previously thought. Genetic mutations in certain muscle genes, such as the RYR1 gene, have been identified as a major cause of MH. This has led to the development of a genetic testing catalog and registry for individuals with suspected MH.

ClinicalTrials.gov, another resource for research studies, lists ongoing clinical trials that aim to further understand MH and develop new treatment options. These trials include testing new drugs and therapies, as well as studying the role of calcium channel mutations in the condition.

Advocacy organizations, such as the Malignant Hyperthermia Association of the United States, provide support and resources for individuals and families affected by MH. They offer information about the condition, research updates, and names of experts in the field, including Dr. Mary C. Rosenberg from the Seattle Children’s Hospital and Dr. Heinz Jungbluth from the University College London.

Scientific articles on PubMed contain valuable information about MH, including case studies, clinical trials, and genetic research. They help researchers and healthcare professionals stay up-to-date with the latest advancements in the field and provide insights for future research.

  • Increased frequency of MH cases
  • Genetic mutations in muscle genes
  • Central resources like PubMed and ClinicalTrials.gov
  • Support and advocacy organizations
  • Research studies on MH
  • Role of calcium channel mutations
  • MH genetic testing catalog and registry
  • Expert names: Dr. Mary C. Rosenberg and Dr. Heinz Jungbluth

With the growing amount of scientific articles and research on MH, there is much to be learned about this rare condition and its associated complications. The insights gained from these studies can contribute to improved diagnoses, treatment options, and support for individuals and families affected by MH.

References

  • Jungbluth H et al. Malignant Hyperthermia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle; 1993-
  • Rosenberg H, Davis M, James D, Pollock N, Stowell K. Malignant Hyperthermia Or Susceptibility To Malignant Hyperthermia? Achondroplasia. seattle (WA): University of Washington, Seattle; 1984-
  • OMIM Entry – #145600 – Malignant Hyperthermia. Johns Hopkins University [Internet]. Available from: https://omim.org/entry/145600
  • OMIM Entry – #601887 – Calcium Release Channel RyR1. Johns Hopkins University [Internet]. Available from: https://omim.org/entry/601887
  • Scientific Publications on Malignant Hyperthermia. PubMed [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=malignant+hyperthermia
  • Center for Malignant Hyperthermia Research and Patient Support [Internet]. Available from: https://www.mhaus.org/