Barth Syndrome

Barth syndrome is a rare birth disorder known to affect at least 50 individuals worldwide at this time. However, the disease is believed to be underdiagnosed so many more could be affected by the birth disorder.

Barth syndrome affects boys and is passed on by the mother through the X chromosome. It is a metabolic and neuromuscular disorder that will affect different systems in the body.

Motor delays, decreased muscle tone, delayed growth, cardiomyopathy, a weakened immune system, fatigue, low blood sugar, mouth ulcers, diarrhea and learning disabilities are common symptoms of this disorder. Although there is no treatment for Barth syndrome, individual symptoms can be treated with medications and therapy.

Most boys that suffer Barth syndrome will die from infections and cardiac failure.