Anaesthesia and neuromuscular disorders, first (11 December 2021), second (28-29 May 2021)

Location: Virtual Zoom Meeting

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

Date: May 28^th and 29^th 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 259^th 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 28^th

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 29^th

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.

Location: Virtual meeting

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

Date: December 11th 2020; PART 1, PART 2 will take place in May 2021.

Organisers: Dr Nicol Voermans (Nijmegen, The Netherlands), Dr Marc Snoeck (Nijmegen, The Netherlands), Prof. Sheila Riazi (Toronto, Canada) and Prof. 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), Ron Litman (Philadelphia, USA), Mette Ørngreen/Nicoline Løkken (Kopenhagen, Denmark), John Rendu (Grenoble, France), Jens Reinmann (Bonn, Germany), Hendrik Rueffert (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 der Bersselaar (Nijmegen, the Netherlands)

Regrets: Robyn Gillies, (Melbourne, Australia) and Kathryn Stowell (Palmerston North, New Zealand)

Because of the COVID-19 pandemic, the 259th ENMC workshop on anaesthesia and neuromuscular disorders initially scheduled in Nijmegen, the Netherlands was changed to a virtual meeting. The organizers split the workshop into two sessions; a virtual meeting in December 2020 and a hybrid meeting (virtual and face-to-face if the conditions allow it) in May 2021 following the European Malignant Hyperthermia Group (EMHG) Annual Meeting in Nijmegen.

The first virtual conference gathered 26 participants from Europe and North America. Participants were medical doctors and/or researchers in the field of (paediatric) neurology, genetics and anaesthesia.

The meeting was opened by Nicol Voermans. She welcomed the participants and presented an overview of the objectives and schedule of the workshop. Main objectives were to increase and share knowledge on the anaesthetic management of patients with neuromuscular disorders and provide a consensus statement and a practical peri-operative risk tool for neuromuscular disorders and anaesthesia. Nicol Voermans and Marc Snoeck presented an introduction on the basics of “anaesthesia for the neurologist and neurology for the anaesthetists”.
Currently, the EMHG is preparing a guideline on anaesthesia in myopathic patients using a Delphi process. This guideline’s focus is mainly on anaesthesiology aspects, while the ENMC guideline will address neuromuscular neurologists and geneticists. Luc Heytens presented the current status of the EMHG guideline. Luuk van den Bersselaar presented the results of a literature review on anaesthesia and myopathies. The anaesthetic management of patients and perioperative complications reported in medical literature was reviewed. The next part of the meeting was performed in two virtual rooms with audience split in two.

In the first parallel session, Jens Reinmann presented the anaesthetic management of myotonic dystrophy. Giorgio Tasca talked about the anaesthetic management in the muscular dystrophies (e.g. Duchenne, Becker, Limb Girdle Dystrophy and Facio Scapulo Humeral Dystrophy). Oscar Díaz Cambronero’s presentation was on anaesthetic management of (acquired and congenital) neuromuscular junction disorders such as myasthenia gravis. This parallel session was chaired by Marc Snoeck and Heinz Jungbluth.

The second parallel session started with a presentation by Nicoline Løkken (with support of Mette Ørngreen) on mitochondrial and metabolic myopathies. This was followed by a presentation from Juan Jesus Vilchez about channelopathies, such as periodic paralysis. The last presentation was given by Andrea Klein about congenital myopathies and congenital muscular dystrophies. This session was chaired by Nicol Voermans and Sheila Riazi.

The last part of this meeting was a plenary session started by Marc Snoeck and Nicol Voermans. They presented the framework of the risk assessment tool. All presenters were asked to complete this tool for the specific neuromuscular disorders. Heinz Jungbluth ended the meeting by a preview about the second meeting in May. He presented four cases of patients with various neuromuscular disorders and mutations in the RYR1 gene. These mutations are associated with malignant hyperthermia, a life threatening anaesthesia complication. Heinz Jungbluth presented the difficulties with the RYR1 variants identified during diagnostic investigations in the neuromuscular clinic. This topic will be addressed next meeting.

This virtual meeting has been a great opportunity to exchange knowledge about the anaesthetic management of patients with neuromuscular disorders. The participants will work on the practical risk assessment tool for anaesthesia and neuromuscular disorders.

A full report is in Neuromuscular Disorders (PDF).

References:
- M Schieren, J Defosse, A Böhmer, F Wappler, MU Gerbershagen. Anaesthetic management of patients with myopathies. Eur J Anaesthesiol. 2017 Oct;34(10):641-649.
- LR van den Bersselaar, MMJ Snoeck, M Gubbels, S Riazi, EJ Kamsteeg, H Jungbluth, NC Voermans. Anaesthesia and neuromuscular disorders: what a neurologist needs to know. Pract Neurol. 2020 Oct 27;practneurol-2020-002633.