The Oxford Congenital Myasthenia Service at the Oxford Radcliffe Hospitals NHS Trust is a national referral centre for children and adults in whom a Congenital Myasthenic Syndrome (CMS) is suspected.
These clinically diverse inherited disorders can arise from mutations in a number of different genes (see below). 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 centre provides diagnosis and management advice and gene screening. It currently screens for mutations in the following genes:
- CHRNA, CHRNB, CHRND and CHRNE – the genes encoding the muscle acetylcholine receptor (AChR)
- RAPSN – responsible for clustering AChR at the neuromuscular junction (NMJ)
- COLQ – which anchors acetlycholinesterase at the NMJ
- CHAT – choline acetlytransferase involved in the synthesis of acetylcholine
- DOK7 – involved in maintaining NMJ structure
- CHRNG – the fetal AChR gamma subunit in which mutations can cause Escobar’s syndrome (screening is on a research basis at present – but will shortly be transferred to the CPA accredited laboratory)
- MUSK – the gene for muscle specific tyrosine kinase can also be screened on a research basis.
Further details including contact information and a downloadable referral form can be accessed here: