Overview
Rare disease with malignant hyperthermia is an uncommon condition in which malignant hyperthermia (MH) occurs as part of a broader rare disease syndrome. Malignant hyperthermia itself is a life-threatening reaction that happens when a person is exposed to certain anesthesia drugs (particularly volatile anesthetic gases like sevoflurane or halothane, and the muscle relaxant succinylcholine). During an episode, the body's muscles go into an uncontrolled state of hypermetabolism, causing a rapid and dangerous rise in body temperature, severe muscle rigidity, a fast heart rate, and breakdown of muscle tissue. Without immediate treatment, it can lead to organ failure and death. In this particular rare disease context (Orphanet code 466658), malignant hyperthermia is a defining or prominent feature of a broader clinical picture that may include additional muscle or systemic abnormalities. The exact underlying genetic cause may vary, but many cases are linked to mutations in genes that control calcium release in muscle cells, most commonly the RYR1 gene. Some patients may also carry mutations in CACNA1S or other related genes. Treatment centers on strict avoidance of triggering anesthetic agents and having emergency protocols in place. The drug dantrolene is the specific antidote used during an acute malignant hyperthermia crisis and has dramatically improved survival rates. Patients and their families should carry medical alert identification and inform all healthcare providers about their susceptibility before any surgical or dental procedure requiring anesthesia.
Key symptoms:
Dangerously high body temperature during anesthesiaSevere muscle stiffness or rigidityRapid heart rateIrregular heartbeatRapid breathing or breathing difficultyDark or cola-colored urine from muscle breakdownExcessive sweatingUnstable blood pressureMuscle pain or crampingElevated blood acid levels (acidosis)Organ failure in severe casesJaw muscle spasm (masseter spasm) after anesthesia
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare disease with malignant hyperthermia.
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Specialists
View all specialists →No specialists are currently listed for Rare disease with malignant hyperthermia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rare disease with malignant hyperthermia.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Should my family members be tested for malignant hyperthermia susceptibility?,What specific anesthetic drugs must I avoid, and what safe alternatives can be used?,How do I make sure dantrolene is available if I need emergency surgery?,Should I get a medical alert bracelet, and what information should it include?,Are there any activities, exercises, or environmental conditions I should avoid?,What should I do if I experience unexplained muscle stiffness, cramping, or dark urine?,Can you help me create a written emergency plan I can share with other doctors and hospitals?
Common questions about Rare disease with malignant hyperthermia
What is Rare disease with malignant hyperthermia?
Rare disease with malignant hyperthermia is an uncommon condition in which malignant hyperthermia (MH) occurs as part of a broader rare disease syndrome. Malignant hyperthermia itself is a life-threatening reaction that happens when a person is exposed to certain anesthesia drugs (particularly volatile anesthetic gases like sevoflurane or halothane, and the muscle relaxant succinylcholine). During an episode, the body's muscles go into an uncontrolled state of hypermetabolism, causing a rapid and dangerous rise in body temperature, severe muscle rigidity, a fast heart rate, and breakdown of mu