Malignant hyperthermia

Common Name(s)

Malignant hyperthermia

Malignant hyperthermia is a severe reaction to particular drugs used during surgery and other invasive procedures. People at increased risk for this disorder are said to have malignant hyperthermia susceptibility. If given these drugs, these people may experience muscle rigidity, breakdown of muscle fibers, a high fever, increased acid levels in the blood and other tissues, and a rapid heart rate. Without prompt treatment, the complications of malignant hyperthermia can be life-threatening. There are at least six forms of malignant hyperthermia susceptibility, which are associated with mutations in different genes (e.g.,  CACNA1S, RYR1). The susceptibility is inherited in an autosomal dominant fashion. People with certain inherited muscle diseases (e.g., central core disease and multiminicore disease) also have malignant hyperthermia susceptibility.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Malignant hyperthermia" for support, advocacy or research.

Malignant Hyperthermia Association of the United States

The mission of MHAUS is to promote optimum care and scientific understanding of MH and related disorders.

Last Updated: 6 May 2014

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The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

Last Updated: 16 Mar 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Malignant hyperthermia" for support, advocacy or research.

Malignant Hyperthermia Association of the United States

The mission of MHAUS is to promote optimum care and scientific understanding of MH and related disorders.

http://www.mhaus.org

Last Updated: 6 May 2014

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The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

http://www.ryr1.org

Last Updated: 16 Mar 2015

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General Resources

North American Malignant Hyperthermia Registry

The Registry's goal is to acquire, analyze, and disseminate case-specific clinical and laboratory information related to malignant hyperthermia susceptibility.

Updated 21 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Malignant hyperthermia" returned 265 free, full-text research articles on human participants. First 3 results:

Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore.
 

Author(s): Daphne Wy Li, Poh San Lai, Delice W Lee, Rita Yy Yong, Tat Leang Lee

Journal: Ann. Acad. Med. Singap.. 2017 Dec;46(12):455-460.

 

Sporadic clinical episodes of malignant hyperthermia (MH) that develop during general anaesthesia (GA) have been reported in Singapore. However, there is no published local report of a confirmed case of MH susceptibility (MHS) by skeletal muscle contracture tests and/or molecular tests.

Last Updated: 31 Dec 1969

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Administration of anaesthetic triggering agents to patients tested malignant hyperthermia normal and their relatives in New Zealand: an update.
 

Author(s): D Frei, K M Stowell, E E Langton, L McRedmond, N A Pollock, T F Bulger

Journal: Anaesth Intensive Care. 2017 09;45(5):611-618.

 

Testing for malignant hyperthermia in New Zealand involves two tests-in vitro contracture testing of excised lateral quadriceps muscle and DNA analysis. In vitro contracture testing is regarded as the gold standard in malignant hyperthermia diagnosis but several publications have ...

Last Updated: 31 Dec 1969

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Reduced threshold for store overload-induced Ca release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
 

Author(s): Wenqian Chen, Andrea Koop, Yingjie Liu, Wenting Guo, Jinhong Wei, Ruiwu Wang, David H MacLennan, Robert T Dirksen, Sui Rong Wayne Chen

Journal:

 

Mutations in the skeletal muscle ryanodine receptor (RyR1) cause malignant hyperthermia (MH) and central core disease (CCD), whereas mutations in the cardiac ryanodine receptor (RyR2) lead to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most disease-associated RyR1 ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Malignant hyperthermia" returned 33 free, full-text review articles on human participants. First 3 results:

Incidence of malignant hyperthermia in patients undergoing general anesthesia: Protocol for a systematic review and meta-analysis.
 

Author(s): Junyong In, Eun Jin Ahn, Dong Kyu Lee, Hyun Kang

Journal: Medicine (Baltimore). 2017 Dec;96(49):e9115.

 

Malignant hyperthermia (MH) continues to be of potential concern for clinicians whenever inhalational anesthetic agents or succinylcholine are used, because MH is a potentially fatal metabolic disorder.

Last Updated: 31 Dec 1969

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Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
 

Author(s): Sheila Riazi, Natalia Kraeva, Philip M Hopkins

Journal: Anesthesiology. 2018 01;128(1):168-180.

 

This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, ...

Last Updated: 31 Dec 1969

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Malignant hyperthermia: a review.
 

Author(s): Henry Rosenberg, Neil Pollock, Anja Schiemann, Terasa Bulger, Kathryn Stowell

Journal:

 

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane, isoflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Malignant Hyperthermia Registry and Genetic Testing
 

Status: Recruiting

Condition Summary: Malignant Hyperthermia

 

Last Updated: 25 Jan 2018

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A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia
 

Status: Recruiting

Condition Summary: Malignant Hyperthermia

 

Last Updated: 28 Jul 2017

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Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

 

Last Updated: 5 May 2017

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