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Disease Profile
Malignant hyperthermia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
All ages
ICD-10
T88.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
MH; Anesthesia related hyperthermia; Malignant hyperpyrexia;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Malignant hyperthermia (MH) is a severe reaction to certain gases used during anesthesia and/or a muscle relaxant used to temporarily paralyze a person during surgery. Signs and symptoms of MH include marked hyperthermia, a rapid heart rate, rapid breathing, acidosis, muscle rigidity, and breakdown of muscle
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Cardiomyocyte mitochondrial proliferation | 0031320 | |
| Fever | 0001945 | |
| Hypercapnia |
High blood carbon dioxide level
|
0012416 |
| Hyperphosphatemia |
High blood phosphate levels
|
0002905 |
| Intermittent painful muscle spasms | 0011964 | |
| Malignant hyperthermia | 0002047 | |
| Metabolic acidosis | 0001942 | |
| Muscle stiffness | 0003552 | |
| Supraventricular tachycardia | 0004755 | |
| Tachypnea |
Increased respiratory rate or depth of breathing
|
0002789 |
| Ventricular tachycardia | 0004756 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of masseter muscle | 3000005 | |
| Abnormality of the coagulation cascade | 0003256 | |
| Acute hepatic failure |
Acute liver failure
|
0006554 |
| Acute kidney injury | 0001919 | |
| Acute rhabdomyolysis | 0008942 | |
| Elevated creatine kinase after exercise | 0008331 | |
| Exercise-induced rhabdomyolysis | 0009045 | |
| High-output congestive heart failure | 0001722 | |
| Hyperkalemia |
Elevated serum potassium levels
|
0002153 |
| Myoglobinuria | 0002913 | |
| Necrotizing myopathy | 0008978 | |
| Ventricular extrasystoles |
Extra heart beat
|
0006682 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- The European Malignant Hyperthermia Group has established guidelines for molecular
genetic testing of malignantsusceptibility and for in-vitrocontracture testing. To read more, click on the link. - Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- dantrolene sodium suspension for injection(Brand name: Ryanodex) Manufactured by Eagle Pharmaceuticals, Inc.
FDA-approved indication: Treatment of malignant hyperthermia in conjunctin with appropriate supportive measures.
National Library of Medicine Drug Information Portal
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The differential diagnosis of a fulminant MH crisis includes sporadic pheochromocytoma, serotonin syndrome, neuroleptic malignant syndrome (see these terms), anaphylactic reaction, thyroid crisis and sepsis.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Malignant Hyperthermia Association of the United States (MHAUS)
1 North Main ST
PO Box 1069
Sherburne, NY 13460
Toll-free: 1-800-644-9737 (for emergencies, 24 hour)
Telephone: +1-607-674-7901 (none emergency)
E-mail: [email protected]
Website: https://www.mhaus.org/
For emergencies outside of North America, call 001-209-417-3722 -
RYR-1 Foundation
P.O. Box 13312
Pittsburgh, PA 15243
Telephone: 412-529-1482
E-mail: [email protected]
Website: https://www.ryr1.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Malignant hyperthermia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Malignant hyperthermia in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Malignant hyperthermia. Click on the link to view a sample search on this topic.
References
- Malignant Hyperthermia. Genetics Home Reference. 2007; https://ghr.nlm.nih.gov/condition/malignant-hyperthermia. Accessed 4/4/2011.
- Mark Davis, Danielle James, Neil Pollock, Henry Rosenberg, Kathryn Stowell. Malignant hyperthermia. Orphanet. April, 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=423. Accessed 6/30/2014.
- Henry Rosenberg, Nyamkhishig Sambuughin, Sheila Riazi, and Robert Dirksen. Malignant hyperthermia susceptibility. GeneReviews. January 31, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1146/. Accessed 6/30/2014.
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