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Saving lives through education, advances in treatment and finding a cure for Barth syndrome



September 2020: The NHS Specialised Service for Barth syndrome has reviewed each case within the UK on an individual basis and has provided tailored advice about going back to school, college, university or work as well as the possibility of needing to reshield if deemed necessary in the future.  We understand that this is a worrying time and that advice will be changing rapidly so please get in touch if you have any questions or need to chat through anything. 

We're working an as international team to share information as it pertains to families affected by Barth syndrome.  Please click here for the latest information.

Barth syndrome is a rare genetic condition that usually affects boys and men (though we do have girls within our group)


Main symptoms:

  • Heart muscle weakness (cardiomyopathy)
  • Neutropenia (lack of white blood cells needed to fight bacterial infections)
  • Fatigue and general muscle weakness
  • Growth/feeding issues

Barth Syndrome UK is a well-established community of families, medical professionals, scientists, donors and volunteers with links to other affiliates all around the world.  We provide the most comprehensive source of reliable and current information about this condition and we invite you to visit our pages to find the information you seek.


We are dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome - a sometimes fatal, often debilitating genetic disease.


Working together we are making a difference in the lives of children and their families. One day there will be a cure; please join us and help us make that day come sooner.


Meet our families


Joes story

Children in Need  - Meet Joe


Narrated by Martin Freeman (Hobbit, Sherlock)

Latest News

During Organ Transplant week, meet Alex!


Download and personalise your School Care Plan


See our Education Guide for Schools


March Family Info Day Presentations


We have changed our name to Barth Syndrome UK and have a new Charity Number 1181830 and bank accounts - please contact us for more info


Our Little Book for Children is a simple, beautifully illustrated guide to Barth syndrome, aimed at young children


Please sign up to our newsletter


CARDIOMAN - first UK clinical trial currently underway


New NHS Hospital Management Plan for Barth syndrome patients


Understanding Feeding - A Health Professionals' Guide to the Early Years ~ March 2019



We are funding a new research project into neutropenia, led by Drs Borko Amulic and Colin Steward, University of Bristol

Neutrophil dysfunction in Barth syndrome 


New Pill Swallowing Factsheet added to Resources Section


Read Laura and Joe's story featured in the Sunday Telegraph


ICD Code for Barth Syndrome ICD-10 E7871/E78.71 



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