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NINDS Barth Syndrome Information Page

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What is Barth Syndrome?

Barth syndrome is a rare congenital metabolic and neuromuscular disorder that affects boys. It is passed from mother to son through the sex-linked, or X, chromosome. Symptoms affect multiple systems of the body and may include changes to metabolism, motor delays, hypotonia (reduced muscle tone), delayed growth, cardiomyopathy (leading to a poorly functioning heart), weakened immune system, chronic fatigue, lack of stamina, hypoglycemia (low blood sugar), mouth ulcers, diarrhea, and varying degrees of physical and learning disability. Boys with the disorder also have fewer white blood cells (a condition called neutropenia), which may lead to an increased risk for serious bacterial infections. Barth syndrome affects at least 50 families worldwide, but there is evidence that it is underdiagnosed. On average 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will have symptoms. All daughters born to an affected male will be carriers.

Is there any treatment?

There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some Barth children but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician or nutritionist familiar with the disorder can ensure proper caloric and nutritional intake.

What is the prognosis?

Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. Severe infections and cardiac failure are common causes of death in affected children.

What research is being done?

The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. The 1996 discovery of the Barth gene, called G4.5 or TAZ1, is helping scientists and physicians better understand the metabolic and biochemical abnormalities seen in the disease and learn how genes cause heart disease, muscle weakness, and other problems in the body. The ultimate goal of this research is to find ways to prevent, treat, and cure these disorders.

NIH Patient Recruitment for Barth Syndrome Clinical Trials

Organizations

Barth Syndrome Foundation, Inc.
P.O. Box 974
Perry, FL   32348
info@barthsyndrome.org
http://www.barthsyndrome.org
Tel: 850-223-1128
Fax: 850-223-3911

  


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated February 12, 2007