Barth Syndrome Trust Registered Charity Number 1100835

Deutsch - Español – Français - Italiano - Nederlands - Português

What is Barth Syndrome?

If you are a newly diagnosed family, you are no longer alone in coping with Barth syndrome. If you are a doctor considering diagnosis of Barth syndrome or for other reasons want information on this disorder, we are here to provide you with the information you need.

We hope that by visiting our site, we will provide you with the knowledge you require, and that you will also take away a belief in yourself, that you can make a difference. Barth syndrome can affect the highest and humblest, richest and poorest alike. The same is true of dedication, compassion and kindness.

What are the main symptoms of Barth syndrome?

● Cardiomyopathy – Heart failure or heart muscle weakness

● Neutropenia – weakness in the immune system (specifically reduced “neutrophils”, a type of white blood cell used in fighting bacterial infections)

● Muscle Weakness and General Fatigue

● Growth Delay – that can be substantial until late teenage years

Please see our Medical brochure for a wealth of information about Barth syndrome.

List of Laboratories in the United Kingdom & Europe which perform Barth Syndrome testing.

New, fast bloodspot test now available for quick and accurate diagnosis. Please contact us for further information.

Barth Syndrome Trust

The Barth Syndrome Trust was created in the United Kingdom (Registered Charity Number 1100835) in order to better serve the needs of affected families here in the UK and in the rest of Europe. An affected family in the UK may have certain specific needs that cannot always be fully met unless it is through a regional organisation that understands these issues. The Barth Syndrome Trust aims to increase awareness amongst physicians and the general public both to facilitate accurate diagnosis and to provide continuing support to affected families after diagnosis. We will put families in touch with each other and we will share information and experiences, both regionally and internationally.

Each newly-diagnosed family will receive a comprehensive New Family Pack which contains vital information about Barth syndrome and what to do next. Membership of our organisation is free. We will tell you about all our initiatives and programs. We will direct you to further sources of information and support, both within UK and Europe and also internationally. We have the support of many doctors and scientists who are experts in this disorder. We provide translators in many different European languages. We are also actively involved in fundraising in order to finance our programs and further research.

The Barth Syndrome Trust works together with the Barth Syndrome Foundation and all other affiliated organisations throughout the world. Together, we continue to generate a positive force to ensure that “not one more child will suffer or perish from Barth syndrome.”

We are all part of one unified, world-wide effort and as such, we have elected to all work through one main website (www.barthsyndrome.org). We are a truly international organisation that supports families living in any country, knowing as we do that it is only through this unified approach that we can succeed in achieving our vision.

Enter BSF Site

Medical Advisors
UK – Bristol Bristol Royal Hospital for Children Dr. Colin G. Steward, BM, BCh, FRCP, FRCPCH, Ph.D. Dr. Steward is a Consultant in Bone Marrow Transplantation at the Royal Hospital for Children in Bristol and treats children with a wide variety of genetic diseases which affect the blood system. He runs a specialised clinic for children with Barth syndrome and believes that the disease has so far been seriously under diagnosed. Dr. Ruth Newbury-Ecob, MBChB, M.D., FRCP, FRCPCH Dr. Newbury-Ecob is a Consultant Clinical Geneticist who has extensive experience with Barth syndrome here in the United Kingdom. Dr. Beverley Tsai-Goodman M.D., MRCP Consultant Paediatric & Foetal Cardiologist Dr. Tsai-Goodman runs the cardiology section of the Barth Bristol Clinic and has been gathering data on affected patients for a number of years.	Netherlands – Amsterdam Emma Children's Hospital Prof. Peter G. Barth, M.D., Ph.D. (Paediatric Neurologist) The first comprehensive description of Barth syndrome was published in 1981 by Dr. Peter Barth in The Netherlands. Dr. Barth identified the condition and its genetic cause. This syndrome now bears Dr. Barth's name. Laboratory of Genetic Metabolic Diseases: Prof. Ronald J.A. Wanders Ph.D. Head of the Laboratory Dr Frédéric M. Vaz Ph.D. (research on expression of TAZ gene) Fredoen Valianpour, MsC (technical aspects of cardiolipin research) Department of Paediatric Immunology: Prof. Taco Kuijpers M.D. Ph.D. (research on the origin and mechanism of neutropenia in Barth syndrome)
Enquiries
Deutsch - Español – Français - Italiano - Nederlands - Português

Home – What's New – Contact Us – Links - Donations

Last updated 11-Jan-09