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Barth syndrome

Related Terms

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Background

  • 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.

Causes

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Signs and Symptoms

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Diagnosis

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Complications

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Treatment

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Integrative Therapies

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Prevention

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Author Information

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References

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

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The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.