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What is Barth Syndrome?

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.

What’s New

● Twice yearly (March & Sept): Barth Syndrome Clinic, Bristol - open to all UK patients (and patients from the European Union who are in possession of a valid S2 form (formerly E112)).

● Sep 2010: New paper written showing that multiple miscarriages of boys can be due to Barth syndrome – (Click here to view). This paper was funded by the Barth Syndrome Trust and the Barth Syndrome Foundation.

● April 2010: New NHS Service for Barth syndrome – dedicated clinic and service offering testing and treatment.

● 2010 Barth Syndrome Conference Video Presentation available on-line.

Barth Syndrome Trust

The Barth Syndrome Trust is the leading charity for Barth syndrome in the UK and Europe and is also affiliated to the US Barth Syndrome Foundation.

We are working hard to help affected families and medical professionals achieve a fast and accurate diagnosis, followed by the best care and support.

We’ll soon be re-launching our website so please bookmark this site and revisit from time to time to access the latest information about the syndrome and what we’re doing.

Membership is free and we have a wealth of information to share with you if you are considering a diagnosis of Barth syndrome or already have a confirmed diagnosis. Please contact us, together we can make a difference!

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Registered Charity Number 1100835  Last updated 8-Jan-12