The Barth Syndrome Foundation of Canada is an affiliate of the Barth Syndrome Foundation, Inc. Together, along with our other international affiliates, we are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis and treatments. If you are considering a diagnosis of Barth syndrome or for other reasons want information on this disorder, we can provide you with:

• Information on symptoms and the latest research findings (as well as access to the world´s largest reference source on published literature consisting of articles about BTHS and topics relevant to aspects of BTHS).
• Access to other members of the medical community worldwide with experience in diagnosing and treating BTHS.
• Barth Syndrome Registry & Repository
• How to Diagnose
• Professional Healthcare Brochure
• BSFCa Highlights of Clinical Knowledge
• BSF Highlights of Clinical Knowledge

Special Request for Healthcare Providers

The Barth Syndrome Foundation (BSF) plays a unique role as the only organization in the world with the largest cohort of individuals who have Barth syndrome (BTHS), and dissemination about research and phenotype of the disorder.

• Human Tafazzin (TAZ) Gene Variants Database

In an effort to provide healthcare professionals and families alike with an invaluable diagnostic tool we are expanding our current Registry and Repository to:

• reflect genotype/phenotype relationship
• include benign variants with ultimate diagnosis of a disorder other than BTHS
• expedite updates in genetic classifications from “unknown significance”

We need your cooperation to accomplish this goal! We would like to be in contact with you if you are a healthcare professional who has:

• previously treated or is currently treating an individual with a genetic diagnosis of BTHS
• previously treated or is currently treating an individual who has had molecular studies with a result of a benign variant of BTHS
• previously treated or is currently treating an individual who has had molecular studies with a result of an unknown variant of BTHS

For information about adding your mutation(s) to the Table, please see BSF.

For more information about the services we provide, please contact us.