Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
Abstract
Malignant hyperthermia susceptibility (MHS) designates individuals at risk of developing a hypermetabolic reaction triggered by halogenated anaesthetics or the depolarising neuromuscular blocking agent suxamethonium. Over the past few decades, beyond the operating theatre, myopathic manifestations impacting daily life are increasingly recognised as a prevalent phenomenon in MHS patients. At the request of the European Malignant Hyperthermia Group, we reviewed the literature and gathered the opinion of experts to define MHS-related myopathy as a distinct phenotype expressed across the adult lifespan of MHS patients unrelated to anaesthetic exposure; this serves to raise awareness about non-anaesthetic manifestations, potential therapies, and management of MHS-related myopathy. We focused on the clinical presentation, biochemical and histopathological findings, and the impact on patient well-being. The spectrum of symptoms of MHS-related myopathy encompasses muscle cramps, stiffness, myalgias, rhabdomyolysis, and weakness, with a wide age range of onset mainly during adulthood. Histopathological analysis can reveal nonspecific abnormalities suggestive of RYR1 involvement, while metabolic profiling reflects altered energy metabolism in MHS muscle. Myopathic manifestations can significantly impact patient quality of life and lead to functional limitations and socio-economic burden. While currently available therapies can provide symptomatic relief, there is a need for further research into targeted treatments addressing the underlying pathophysiology. Counselling early after establishing the MHS diagnosis, followed by multidisciplinary management involving various medical specialties, is crucial to optimise patient care.
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BibTeX
@article{moreno2026myopathic,
title = {{Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review}},
author = {Carlos Ibarra Moreno and Helga C.A. Silva and Nicol Voermans and Heinz Jungbluth and Luuk van den Bersselaar and John Rendu and Agnieszka Cieniewicz and Philip Hopkins and Sheila Riazi},
journal = {British Journal of Anaesthesia},
year = {2026},
month = oct,
doi = {10.1016/j.bja.2024.05.046},
url = {https://hal.science/hal-05788863v1},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review
AU - Carlos Ibarra Moreno
AU - Helga C.A. Silva
AU - Nicol Voermans
AU - Heinz Jungbluth
AU - Luuk van den Bersselaar
AU - John Rendu
AU - Agnieszka Cieniewicz
AU - Philip Hopkins
AU - Sheila Riazi
PY - 2026
DA - 2026/10/09
JO - British Journal of Anaesthesia
DO - 10.1016/j.bja.2024.05.046
UR - https://hal.science/hal-05788863v1
AB - Malignant hyperthermia susceptibility (MHS) designates individuals at risk of developing a hypermetabolic reaction triggered by halogenated anaesthetics or the depolarising neuromuscular blocking agent suxamethonium. Over the past few decades, beyond the operating theatre, myopathic manifestations impacting daily life are increasingly recognised as a prevalent phenomenon in MHS patients. At the request of the European Malignant Hyperthermia Group, we reviewed the literature and gathered the opinion of experts to define MHS-related myopathy as a distinct phenotype expressed across the adult lifespan of MHS patients unrelated to anaesthetic exposure; this serves to raise awareness about non-anaesthetic manifestations, potential therapies, and management of MHS-related myopathy. We focused on the clinical presentation, biochemical and histopathological findings, and the impact on patient well-being. The spectrum of symptoms of MHS-related myopathy encompasses muscle cramps, stiffness, myalgias, rhabdomyolysis, and weakness, with a wide age range of onset mainly during adulthood. Histopathological analysis can reveal nonspecific abnormalities suggestive of RYR1 involvement, while metabolic profiling reflects altered energy metabolism in MHS muscle. Myopathic manifestations can significantly impact patient quality of life and lead to functional limitations and socio-economic burden. While currently available therapies can provide symptomatic relief, there is a need for further research into targeted treatments addressing the underlying pathophysiology. Counselling early after establishing the MHS diagnosis, followed by multidisciplinary management involving various medical specialties, is crucial to optimise patient care.
SN - 0007-0912
SN - 1471-6771
ER -