Anaesthesia and neuromuscular disorders


Number 259
Date 28 May 2021

Location: Virtual Zoom Meeting

Title: 259th ENMC International Workshop: Anaesthesia and neuromuscular disorders

Date: May 28th and 29th 2021; PART 2 (PART 1 took place in December 2020).

Organisers: Nicol Voermans (Nijmegen, The Netherlands), Marc Snoeck (Nijmegen, The Netherlands), Sheila Riazi (Toronto, Canada) and Heinz Jungbluth (London, UK).

Participants: Oscar Díaz Cambronero (Valencia, Spain), Martina Cornel (Amsterdam, The Netherlands), Klaus Dietrich (Grenoble, France), Francesca Forzana (London, UK), Luc Heytens (Antwerp, Belgium), Phil Hopkins (Leeds, UK), Anna Hellblom (Lund, Sweden), Erik-Jan Kamsteeg (Nijmegen, The Netherlands), Andrea Klein (Bern, Switzerland), Mette Ørngreen/Nicoline Løkken (Kopenhagen, Denmark), John Rendu (Grenoble, France), Jens Reinmann (Bonn, Germany), Hendrik Rueffert (Leipzig, Germany), Börge Bastian (Leipzig, Germany) Helga Silva (Sao Paulo, Brasil), Maria Soller (Stockholm, Sweden), Giorgio Tasca (Rome, Italy), Juan Jesus Vilchez (Valencia, Spain), Stephan Johanssen, (Wurzburg, Germany), Luuk van den Bersselaar (Nijmegen, the Netherlands), Robyn Gillies, (Melbourne, Australia), Kathryn Stowell (Palmerston North, New Zealand), Francis Veyckemans (Lille, France), Tino Münster (Regensburg, Germany), Charlotte van Esch (Baarn, The Netherlands).

The 259th ENMC workshop on anaesthesia and neuromuscular disorders, initially scheduled in December 2020 Nijmegen, the Netherlands, was changed to a virtual meeting because of the Covid-19 pandemic. The organisers split the workshop into two sessions; a first virtual meeting in December 2020 and a second virtual meeting in May 2021. The lay report of the first meeting has been published on the ENMC website.

The second virtual meeting gathered 29 participants from four continents. Participants were medical doctors and/or researchers in the field of (paediatric) neurology, genetics and anaesthesia and patient representatives.

Day 1: May 28th

The first session was about new developments in the field of malignant hyperthermia. This session was chaired by Luc Heytens. Anna Hellblom presented the differences and similarities between malignant hyperthermia and anaesthesia induced rhabdomyolysis, an anaesthesia complication associated with muscular dystrophies. Francis Veyckemans presented a practical approach on how to anaesthetise a child with an unspecified myopathy. Phil Hopkins presented on the overlapping mechanisms of malignant hyperthermia and exertional heat illness. Heinz Jungbluth’s presentation was on the evolving spectrum of RYR1-related myopathies, malignant hyperthermia and exertional rhabdomyolysis. Henrik Rueffert presented on the indication for the use of dantrolene in malignant hyperthermia and rhabdomyolysis.

The second session of this day was on the patient perspective, increasing awareness, and dissemination of knowledge. This session was chaired by Henrik Rueffert. Nicol Voermans presented the story of a semi-professional cyclist who had to end his career because of recurrent episode of exercise induced rhabdomyolysis. A recording of this patient telling his story was disseminated amongst the participants. Luuk van den Bersselaar presented the preliminary results from a questionnaire study amongst anaesthesiologists and neurologists, on practice in peri-operative care for patients with neuromuscular disorders. Henrik Rueffert presented his experiences with anaesthesia warning cards. He presented some illustrative cases where a warning card could have prevented an anaesthesia complication if the warning cards had been found immediately. Finally, Charlotte van Esch presented on the ALERT project initiated by the Dutch patient organisation of neuromuscular disorders. She explained the process of development and implementation of emergency warning cards for patients with neuromuscular disorders.

The last session was about the ENMC consensus statement for the anaesthetic management of patients with neuromuscular disorders. Nicol Voermans and Marc Snoeck presented the timeline to a final recommendations document. Possibilities to start multi-centre research and prospective data collection in a common database on the anaesthetic management of patients with neuromuscular disorders were discussed.

Day 2: May 29th

The programme of day two was focussed on genetic counselling of patients with malignant hyperthermia, rhabdomyolysis and RYR1-related myopathies. This part of the workshop was chaired by John Rendu and Heinz Jungbluth. John Rendu presented the already identified and new genes associated with malignant hyperthermia. Kathryn Stowell gave an overview of pathogenicity ascertainment of RYR1 variants implicated in malignant hyperthermia according to the recently published guidelines from the Malignant Hyperthermia Susceptibility Variant Curation Expert Panel. Next, Klaus Dieterich presented on genetic counselling in malignant hyperthermia and summarized current challenges and limitations. Luuk van den Bersselaar presented the preliminary data of a retrospective study reviewing the referral criteria for malignant hyperthermia diagnostics between 2010-2019. An increasing number of patients without a history of anaesthetic adverse events were referred to malignant hyperthermia investigation units last years. Finally, Heinz Jungbluth presented an ENMC concept of recommendations for genetic counselling of RYR1-related disorders and the risk of malignant hyperthermia. The most important parts of this concept guideline were discussed with the participants.

This virtual meeting has been a great opportunity to exchange knowledge about the anaesthetic management of patients with neuromuscular disorders amongst experts from the NMD research field and experts from other disciplines. The participants will work on ENMC recommendations for genetic counselling in RYR1-related disorders and the anaesthetic management of patients with neuromuscular disorders.