EAN 2021 | Presynaptic vs postsynaptic genetic mutations in severity of neuromuscular disease

David Beeson, MA, PhD, Department of Clinical Neurology, University of Oxford, Oxford, UK, discusses the potential genotype-phenotype relationships of less common presynaptic genetic mutations affecting the severity of neuromuscular disorders. The reduced ability to recycle acetylcholine in the presynaptic terminal due to genetic mutations may correlate with a more severe phenotype of neuromuscular disease. In addition, with presynaptic mutation, there may be more central nervous system involvement that is not seen in the postsynaptic-associated disorders. This leads to more multisystem effects that are not localized to the neuromuscular junction. This interview took place during the European Academy of Neurology 2021 congress.