Barth syndrome

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Barth syndrome is a rare metabolic and neuromuscular disorder that appears to only affect males. At birth or a few months after birth, infants typically have reduced muscle tone and an enlarged heart that does not pump efficiently. Other characteristics of Barth syndrome include muscle weakness, fatigue, short stature, and frequent infections (caused by a weakened immune system).
Researchers estimate that Barth syndrome affects at least 50 families worldwide, but some experts believe that Barth syndrome is under-diagnosed. Quality studies determining the prevalence of the disorder are lacking. However, it is estimated that fewer than 10 babies are born with Barth syndrome each year in the United States. This suggests an incidence rate of one out of 300,000-400,000 births. On average, 50% 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.
There is currently no cure or specific treatment for Barth syndrome. Instead, treatment focuses on reducing the symptoms and preventing complications, such as infections. Severe infections and heart failure are common causes of death in affected children. Early diagnosis and treatment are essential for prolonged survival for boys born with Barth syndrome.

Related Terms

3-methylglutaconic aciduria type II, cardioskeletal myopathy, EFE2, endocardial fibroelastosis type 2, G-CSF, G4.5 gene, granulocyte colony stimulating factor, metabolic disorder, MGA Type II, neuromuscular disorder, neutropenia, neutrophil, TAZ1 gene, X-linked cardioskeletal myopathy and neutropenia, X-linked recessive disorder.