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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Anesthesiology

Safety, Emergencies, & Malignant Hyperthermia

At a Glance

Children with congenital myopathy face severe risks from standard anesthesia (Malignant Hyperthermia) and common colds. Safe surgeries require trigger-free IV anesthesia (TIVA), while respiratory illnesses demand proactive use of airway clearance machines following a formal Sick Day Protocol.

When a child has congenital myopathy, common events like a standard surgery or a minor cold require a different level of preparation. Being proactive about these safety risks is the most effective way to prevent a medical crisis. Two critical areas of preparedness are Malignant Hyperthermia and Respiratory Sick Day Protocols.

Malignant Hyperthermia (MH): An Anesthesia Emergency

Malignant Hyperthermia (MH) is a life-threatening reaction to certain types of anesthesia. In children with specific genetic mutations—most commonly in the RYR1 or STAC3 genes—the body’s muscle cells have a “gatekeeper” that gets stuck open when exposed to “trigger” medications [1][2]. This causes a massive release of calcium, leading to severe muscle rigidity, a dangerously high body temperature, and rapid muscle breakdown [2][3].

How to Prevent MH

If your child has a high-risk mutation (or even if their specific mutation is unknown but they have a congenital myopathy), they must receive a trigger-free anesthetic protocol [4][1].

  • Avoid Triggers: The primary triggers are volatile gas anesthetics (the “sleepy gases”) and a specific muscle relaxant called succinylcholine [3][5].
  • Use TIVA: Total Intravenous Anesthesia (TIVA) is the safe alternative. It uses medications like propofol delivered through an IV, which does not trigger the MH reaction [6][7].
  • What is Safe? It is reassuring to know that standard local anesthetics (like novocaine or lidocaine used at the dentist) and nitrous oxide (“laughing gas”) are generally safe and do NOT trigger MH [1].
  • Medical Alerts: Your child should always wear a medical alert bracelet and carry a card stating “Malignant Hyperthermia Susceptible.” In an emergency, this informs doctors to use safe medications and have the “antidote” medication, Dantrolene, ready [8][9].

Neuromuscular Sick Day Protocol

For a healthy child, a cold is an inconvenience. For a child with weak respiratory muscles, a cold can be dangerous because they may not be able to cough hard enough to clear their airways [10][11].

A Sick Day Protocol is a written plan from your pulmonologist that you follow at the first sign of a runny nose or cough. It typically includes:

  1. Aggressive Airway Clearance: Increase the use of the Cough Assist (MI-E) machine. Instead of using it once or twice a day, you may use it every 2 to 4 hours to prevent mucus from settling in the lungs and causing pneumonia [12][13].
  2. Respiratory Support: Your child may need to use their BiPAP machine more often, including during daytime naps, to help their breathing muscles rest while they fight the infection [14][15].
  3. Monitoring Beyond the Oximeter: While a pulse oximeter tracks oxygen levels, it can be misleading. A child can have “normal” oxygen levels but still be struggling to clear carbon dioxide (hypercapnia). Watch for red flags like extreme sleepiness, morning headaches, or working very hard to breathe [16][17].

When to Go to the Hospital

Do not wait for oxygen levels to drop. Seek emergency care if your child has a weak/ineffective cough, is unusually lethargic, or is “retracting” (the skin pulls in around the ribs or neck with every breath) [18].

Crucially, always bring your child’s own respiratory equipment (BiPAP, Cough Assist, and masks) to the emergency room. Many local ERs do not have specialized pediatric masks or the correct pressure settings readily available, making your own equipment a vital safety net [14].

Pro-Tip: Keep an “Emergency Go-Bag” packed with your written Sick Day Protocol, MH alert card, specialist phone numbers, and extra power cords for all medical equipment.

Common questions in this guide

Why is standard anesthesia dangerous for a child with congenital myopathy?
Children with certain genetic mutations, such as RYR1 or STAC3, are at high risk for Malignant Hyperthermia (MH) when exposed to specific anesthesia gases or muscle relaxants. This triggers a severe, life-threatening reaction causing muscle rigidity and dangerously high body temperature.
What type of anesthesia is safe if my child has a congenital myopathy?
Total Intravenous Anesthesia (TIVA) using medications like propofol is safe because it does not trigger a Malignant Hyperthermia reaction. Local anesthetics, such as those used at the dentist, and nitrous oxide are also considered safe.
What should I do if my child with a congenital myopathy gets a cold?
You should immediately start the written Sick Day Protocol provided by your pulmonologist. This typically involves aggressive airway clearance using a Cough Assist machine every few hours and increased use of BiPAP to help their breathing muscles rest.
Should I rely only on a pulse oximeter when my child is sick?
No, relying solely on a pulse oximeter can be misleading. Your child could have normal oxygen readings but be struggling to clear carbon dioxide, so you must watch for extreme sleepiness, morning headaches, or visible struggles to breathe.
What should I bring to the emergency room for my child?
Always bring your child's personal respiratory equipment, including their BiPAP machine, Cough Assist device, pediatric masks, and power cords. Many local emergency rooms do not have specialized pediatric sizes or the correct pressure settings readily available.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Does my child have a confirmed mutation in the RYR1 or STAC3 genes?
  2. 2.Can you provide a formal letter for our anesthesiologist stating that my child requires a 'trigger-free' TIVA (Total Intravenous Anesthesia) protocol?
  3. 3.What is my child's 'baseline' oxygen saturation, and at what point should we seek emergency care during a cold?
  4. 4.Can we review the correct settings and frequency for the Cough Assist (MI-E) machine during a respiratory illness?
  5. 5.Does the local emergency room have access to Dantrolene in case of an accidental anesthesia exposure?

Questions For You

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References

References (18)
  1. 1

    Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.

    Foo CTY, To YH, Irwanto A, et al.

    Scientific reports 2022; (12(1)):5429 doi:10.1038/s41598-022-09310-w.

    PMID: 35361824
  2. 2

    Malignant hyperthermia.

    Hopkins PM, Gupta PK, Bilmen JG

    Handbook of clinical neurology 2018; (157()):645-661 doi:10.1016/B978-0-444-64074-1.00038-0.

    PMID: 30459030
  3. 3

    Clinical protocol for the management of malignant hyperthermia.

    Kollmann-Camaiora A, Alsina E, Domínguez A, et al.

    Revista espanola de anestesiologia y reanimacion 2017; (64(1)):32-40 doi:10.1016/j.redar.2016.06.004.

    PMID: 27633384
  4. 4

    Consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients from the European Malignant Hyperthermia Group.

    Rüffert H, Bastian B, Bendixen D, et al.

    British journal of anaesthesia 2021; (126(1)):120-130 doi:10.1016/j.bja.2020.09.029.

    PMID: 33131754
  5. 5

    Malignant hyperthermia in a 4-year-old girl during anesthesia induction with sevoflurane and succinylcholine for congenital ptosis surgery.

    Ferhi F, Dardour L, Tej A, et al.

    Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2019; (33(2)):183-187 doi:10.1016/j.sjopt.2018.10.002.

    PMID: 31384166
  6. 6

    Remimazolam-based total intravenous anesthesia in a patient with a confirmed diagnosis of malignant hyperthermia: a case report.

    Kondo H, Mukaida K, Sasai K, et al.

    JA clinical reports 2024; (10(1)):26 doi:10.1186/s40981-024-00710-7.

    PMID: 38647904
  7. 7

    Effects of Remimazolam and Propofol on Ca2+ Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation.

    Watanabe T, Miyoshi H, Noda Y, et al.

    BioMed research international 2021; (2021()):8845129 doi:10.1155/2021/8845129.

    PMID: 33490280
  8. 8

    JSA guideline for the management of malignant hyperthermia crisis 2016.

    Journal of anesthesia 2017; (31(2)):307-317 doi:10.1007/s00540-016-2305-z.

    PMID: 28246924
  9. 9

    Rapid Dantrolene Administration with Body Temperature Monitoring Is Associated with Decreased Mortality in Japanese Malignant Hyperthermia Events.

    Toyota Y, Kondo T, Shorin D, et al.

    BioMed research international 2023; (2023()):8340209 doi:10.1155/2023/8340209.

    PMID: 36874927
  10. 10

    Myopathology in congenital myopathies.

    Sewry CA, Wallgren-Pettersson C

    Neuropathology and applied neurobiology 2017; (43(1)):5-23 doi:10.1111/nan.12369.

    PMID: 27976420
  11. 11

    Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.

    de Winter JM, Gineste C, Minardi E, et al.

    Human molecular genetics 2021; (30(14)):1305-1320 doi:10.1093/hmg/ddab112.

    PMID: 33909041
  12. 12

    Physiological Effects of Mechanical Insufflation-Exsufflation in Patients With Neuromuscular Disease: A Scoping Review.

    Edel L, Andersen T, Shkurka E

    Respiratory care 2026; (71(1)):86-96 doi:10.1177/19433654251372040.

    PMID: 40996427
  13. 13

    Optimizing Mechanical Insufflation-Exsufflation - Much More than Cough Peak Flow.

    Branson RD, Benditt JO

    Respiratory care 2020; (65(2)):265-268 doi:10.4187/respcare.07682.

    PMID: 31988254
  14. 14

    Combined noninvasive ventilation and mechanical insufflator-exsufflator for acute respiratory failure in patients with neuromuscular disease: effectiveness and outcome predictors.

    Chen TH, Liang WC, Chen IC, et al.

    Therapeutic advances in respiratory disease 2019; (13()):1753466619875928 doi:10.1177/1753466619875928.

    PMID: 31544581
  15. 15

    Respiratory issues and current management in neuromuscular diseases: a narrative review.

    Akpa B, Pusalavidyasagar S, Iber C

    Journal of thoracic disease 2024; (16(9)):6292-6307 doi:10.21037/jtd-23-1931.

    PMID: 39444856
  16. 16

    Hypercapnia is not excluded by normoxia in neuromuscular disease patients: implications for oximetry.

    Gray E, Menadue C, Piper A, et al.

    ERJ open research 2024; (10(4)) doi:10.1183/23120541.00927-2023.

    PMID: 39010884
  17. 17

    Ambulatory transcutaneous carbon dioxide monitoring for children with neuromuscular disease.

    Shi J, Chiang J, Ambreen M, et al.

    Sleep medicine 2023; (101()):221-227 doi:10.1016/j.sleep.2022.10.028.

    PMID: 36435158
  18. 18

    Risk Stratification and Management of Acute Respiratory Failure in Patients With Neuromuscular Disease.

    McKenzie ED, Kromm JA, Mobach T, et al.

    Critical care medicine 2024; (52(11)):1781-1789 doi:10.1097/CCM.0000000000006417.

    PMID: 39297721

This page provides emergency and safety preparedness information for educational purposes. Always consult your child's neurologist, pulmonologist, or anesthesiologist for specific medical advice and emergency planning.

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