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BACKGROUND Patients with neuromuscular conditions are at increased risk of suffering peri-operative complications related to anaesthesia. There is currently little specific anaesthetic guidance concerning these patients. Here we present the European Neuromuscular Centre (ENMC) consensus statement on anaesthesia in patients with neuromuscular disorders as formulated during the 259th ENMC workshop on Anaesthesia in neuromuscular disorders. METHODS International experts in the field of (paediatric) anaesthesia, neurology and genetics were invited to participate in the ENMC workshop. A literature search was conducted in PubMed and EMBASE whose main findings were disseminated to the participants and presented during the workshop. Depending on specific expertise, participants presented the existing evidence and their expert opinion concerning anaesthetic management in six specific groups of myopathies and neuromuscular junction disorders. The consensus statement was prepared according to the Appraisal of Guidelines for REsearch & Evaluation (AGREE II) reporting checklist. The level of evidence has been adapted according to the Scottish Intercollegiate Guidelines Network (SIGN) grading system. The final consensus statement was subjected to a modified Delphi process. RESULTS A set of general recommendations valid for the anaesthetic management of patients with neuromuscular disorders in general have been formulated. Specific recommendations were formulated for 1) neuromuscular junction disorders; 2) muscle channelopathies (non-dystrophic myotonia and periodic paralysis); 3) myotonic dystrophy (type 1 and 2); 4) muscular dystrophies; 5) congenital myopathies and congenital dystrophies and 6) mitochondrial and metabolic myopathies. CONCLUSION This ENMC consensus statement summarizes the most important considerations for planning and performing anaesthesia in patients with neuromuscular disorders.

Background and purpose Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only 15% to 32.5% of patients with dHMN are characterized genetically. Additionally, the prevalence of these genetic disorders is not well known. Recently, biallelic mutations in the sorbitol dehydrogenase gene (SORD) have been identified as a cause of dHMN, with an estimated frequency in undiagnosed cases of up to 10%. Methods In the present study, we included 163 patients belonging to 108 different families who were diagnosed with a dHMN and who underwent a thorough genetic screening that included next-generation sequencing and subsequent Sanger sequencing of SORD. Results Most probands were sporadic cases (62.3%), and the most frequent age of onset of symptoms was 2 to 10 years (28.8%). A genetic diagnosis was achieved in 37/108 (34.2%) families and 78/163 (47.8%) of all patients. The most frequent cause of distal hereditary motor neuropathies were mutations in HSPB1 (10.4%), GARS1 (9.8%), BICD2 (8.0%), and DNAJB2 (6.7%) genes. In addition, 3.1% of patients were found to be carriers of biallelic mutations in SORD. Mutations in another seven genes were also identified, although they were much less frequent. Eight new pathogenic mutations were detected, and 17 patients without a definite genetic diagnosis carried variants of uncertain significance. The calculated minimum prevalence of dHMN was 2.3 per 100,000 individuals. Conclusions This study confirms the genetic heterogeneity of dHMN and that biallelic SORD mutations are a cause of dHMN in different populations.