Barth Syndrome
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What is Barth Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
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?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
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 |
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Last updated February 12, 2007