Malignant Hyperthermia

Malignant hyperthermia is a pathology that is inherited in an autosomal dominant manner and is characterized by fever and severe muscle contractions if the person receives general anesthesia.

Malignant hyperthermia (MH) is a rare hereditary disease that causes a rapid rise in body temperature (fever) and intense muscle contractions that is triggered when the susceptible person receives general anesthesia. This condition should not be confused with hyperthermia due to medical emergencies, such as heat stroke or infection.

Symptoms

Symptoms include:

  • Bleeding
  • Dark brown urine
  • Muscle pain without an obvious cause, such as exercise or injury
  • Muscle tightness and stiffness
  • Rapid rise in temperature
  • Eyelid myotonia (a condition in which after opening and closing the eyes, they cannot be opened again for a short time)

Disease management

The use of certain medications such as dantrolene may prevent the complications of malignant hyperthermia during surgery.

Stimulant drugs such as cocaine, amphetamines (stimulants), and ecstasy should be avoided because they can cause problems similar to malignant hyperthermia in people who are prone to this condition.

Anyone who suffers from myopathy (caused by defects in any of the MH susceptibility genes such as RYR1, CACNA1S, STAC3), rhabdomyolysis, hyperkalemia of unknown origin, or who is a carrier of pathogenic variants in these genes or has family members with MH susceptibility genes such as RYR1, CACNA1S, STAC3.It is recommended to seek genetic counseling and inform your physician and anesthesiologist if you are a carrier of pathogenic variants in these genes or have blood relatives who are carriers and/or have suffered an MH reaction.

Genes analyzed

RYR1 CACNA1S U
U Ultra Whole Genome Sequencing 30x

Bibliography

Hopkins PM, Girard T, Dalay S, et al . Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists. Anaesthesia. 2021 May;76(5):655-664.

Lawal TA, Wires ES, Terry NL, et al . Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Manning BM, Quane KA, Ording H, et al . Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet. 1998 Mar;62(3):599-609.

What do your genes say about you? Start your journey today.

Get a special 5% discount on your first kit.

Haven't you taken our DNA test yet?

Get your genetic test and discover what your DNA says about you.

pack
Starter DNA test
The best option to get started

Ancestry service, Traits and Wellness

Buy
pack
DNA test Advanced DNA test
Know your DNA in depth

Health, Ancestry service, Traits and Wellness

Buy
pack
Genetic analysisUltra
Whole Genome Sequencing 30x

Health, Ancestrality, Traits and Wellness

includes three months of tellmeGen+

Buy

Important information and limitations

Europe
Austria
Belgium
Czech Republic
Denmark
Finland
Germany
Hungary
Ireland
Italy
Netherlands
Norway
Poland
Portugal
Romania
Spain
Sweden
Switzerland
United Kingdom
Asia
Kazakhstan
Saudi Arabia
UAE
America
Brazil
Canada
Chile
Colombia
Mexico
Panama
Peru
United States
Oceania
Australia
BLACK FRIDAY Sale Only until November 27 Use our coupon BLACK15
Buy