Anesthesia‐induced rhabdomyolysis or malignant hyperthermia: is defining the crisis important?

Gray, Rebecca

doi:10.1111/pan.13130

Cited by 30 publications

(20 citation statements)

References 13 publications

(15 reference statements)

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“…Clinical features associated with RYR1 -RM have been extensively described [1, 16, 20]. Across all ages, RYR1 -RM clinical features include symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities) [16], MH susceptibility, anesthesia-induced rhabdomyolysis [55], fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia [56].…”

Section: Clinical Phenotypes Indicative Of Ryr1-rmmentioning

confidence: 99%

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

2018

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Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of congenital myopathies. Historically, RYR1-RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy. Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core–rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. A range of RYR1-RM clinical phenotypes has also emerged more recently and includes King Denborough syndrome, RYR1 rhabdomyolysis-myalgia syndrome, atypical periodic paralysis, congenital neuromuscular disease with uniform type 1 fibers, and late-onset axial myopathy. This expansion of the RYR1-RM disease spectrum is due, in part, to implementation of next-generation sequencing methods, which include the entire RYR1 coding sequence rather than being restricted to hotspot regions. These methods enhance diagnostic capabilities, especially given historic limitations of histopathologic and clinical overlap across RYR1-RM. Both dominant and recessive modes of inheritance have been documented, with the latter typically associated with a more severe clinical phenotype. As with all congenital myopathies, no FDA-approved treatments exist to date. Here, we review histopathologic, clinical, imaging, and genetic diagnostic features of the main RYR1-RM subtypes. We also discuss the current state of treatments and focus on disease-modulating (nongenetic) therapeutic strategies under development for RYR1-RM. Finally, perspectives for future approaches to treatment development are broached.

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Section: Clinical Phenotypes Indicative Of Ryr1-rmmentioning

confidence: 99%

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

2018

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“…10 Another condition, anesthesia-induced rhabdomyolysis (AIR), is induced by the same agents but requires different management. 11 In young males in particular, sudden hyperkalemic cardiac arrest is a syndrome often confused with MH. 4…”

Section: Symptoms and Similar Conditionsmentioning

confidence: 99%

A comprehensive review of malignant hyperthermia: Preventing further fatalities in orthopedic surgery

Smith

Tranovich

Ebraheim

2018

Journal of Orthopaedics

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Most frequently associated with orthopedic surgery, malignant hyperthermia is a rare genetic condition linked to volatile anesthetics and succinylcholine. If not treated quickly with appropriate measures, death may result. To aid in the prevention of further fatalities, this review seeks to educate clinicians and staff on the presentation and treatment of this disease, as well as to provide a comprehensive overview by further addressing prevalence, similar conditions, pathogenesis and other aspects. Although the number of deaths due to malignant hyperthermia has greatly declined in the last several years, increased knowledge may eliminate associated mortalities, particularly in the orthopedic setting.

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“…Furthermore, the medical literature on this subject is mostly limited to publications in anaesthetics journals. 1–5 In this paper, we therefore aim to summarise general recommendations and specific advice for anaesthesia in different neuromuscular disorders (boxes 1 and 2).…”

Section: General Anaesthesia In the Context Of Neuromuscular Disordersmentioning

confidence: 99%

Anaesthesia and neuromuscular disorders: what a neurologist needs to know

et al. 2020

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Neurologists are often asked for specific advice regarding patients with neuromuscular disease who require general anaesthesia. However, guidelines on specific neuromuscular disorders do not usually include specific guidelines or pragmatic advice regarding (regional and/or general) anaesthesia or procedural sedation. Furthermore, the medical literature on this subject is mostly limited to publications in anaesthesiology journals. We therefore summarise general recommendations and specific advice for anaesthesia in different neuromuscular disorders to provide a comprehensive and accessible overview of the knowledge on this topic essential for clinical neurologists. A preoperative multidisciplinary approach involving anaesthesiologists, cardiologists, chest physicians, surgeons and neurologists is crucial. Depolarising muscle relaxants (succinylcholine) should be avoided at all times. The dose of non-depolarising muscle relaxants must be reduced and their effect monitored. Patients with specific mutations in RYR1 (ryanodine receptor 1) and less frequently in CACNA1S (calcium channel, voltage-dependent, L type, alpha 1S subunit) and STAC3 (SH3 and cysteine rich domain 3) are at risk of developing a life-threatening malignant hyperthermia reaction.

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Anesthesia‐induced rhabdomyolysis or malignant hyperthermia: is defining the crisis important?

Cited by 30 publications

References 13 publications

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

A comprehensive review of malignant hyperthermia: Preventing further fatalities in orthopedic surgery

Anaesthesia and neuromuscular disorders: what a neurologist needs to know

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