Barth Syndrome

Barth Syndrome is a genetic disorder that manifests itself in several ways from birth. Despite adequate nutrition, children suffering from Barth Syndrome may experience stunted growth and weight, learning disabilities, abnormal muscular development, muscle weakness and an intolerance to exercise.

Barth Syndrome is considered under-diagnosed and has a strong correlation to stillbirths.

Barth Syndrome is caused by a mutation in the tafazzin gene where the gene has been deleted, become inactive or spliced.