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The Barth Syndrome Service at Bristol Royal Hospital for Children is a multidisciplinary service for the management of this complex multisystem disease and the first of its type in the World. 

 A clinic for males affected by Barth Syndrome had been run informally in Bristol since 2004 in conjunction with the Barth Syndrome Trust. Since April 2010 NHS Specialised Services have provided funding  for a full multidisciplinary service  for patients from throughout the UK. This involves input from Consultants in all of the relevant areas of paediatrics - genetics, cardiology, haematology, metabolic medicine, neurology, gastroenterology and endocrinology - together with Clinical Nurse Specialist (CNS), dietetic, psychology, physiotherapy and occupational therapy care. 

Boys at Barth Syndrome ClinicCentral to the service is the opportunity to attend a multidisciplinary clinic at a frequency determined by clinical needs. The aim of the service is to minimise the number of hospital visits which boys require as well as providing expert care for a disease with many unique features. Clinics are run on a six monthly basis, with patients seen at other times where necessary.

Diagnostic biochemical and genetic testing for the disease is provided free of charge to referring UK doctors.