We provide a nationally commissioned specialised service for the diagnosis and management of children and adults in whom a congenital myasthenic syndrome is suspected.
Congenital Myasthenic Syndromes (CMS) are a group of diverse inherited disorders that cause fatigueable muscle weakness due to impaired neuromuscular junction signal transmission. They arise from mutations in a number of different genes and choice of treatment depends upon the genetic subtype.
The service is funded by the National Commissioning Group (NCG, formerly the National Specialist Commissioning Advisory Group), as part of the Diagnostic and Advisory Service for Rare Neuromuscular Disorders.
The clinical service is based in Oxford with additional paediatric clinics at Great Ormond Street Hospital. Gene screening is performed at the clinical genetics laboratories, Oxford. Where novel mutations are identified Professor Beeson’s research laboratory has developed an increasing repertoire of functional analyses to confirm pathogenicity. The clinical service has close links with the research laboratory which has been responsible for the identification of novel CMS-associated genes.
Muscle MRI in CMS study – a prospective study to investigate whether muscle MRI can help to differentiate between CMS subtypes.