Barth Syndrome
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What is Barth Syndrome?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat 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.
Select this link
to view a list of studies currently seeking patients.
Organizations
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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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.
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Last updated February 12, 2007
