Barth syndrome is a rare genetic disorder which is also known as 3-Methylglutaconic acididuria type II and is named after Dutch paediatric neurologist Peter Barth. This disorder affects only males and attacks multiple body systems.
The disorder leads to many serious body system problems like:
Treatment for Barth syndrome isn’t specific and is essentially supportive and multidisciplinary in nature. Conventional medicines can be prescribed to treat cardiac failure or cardiac transplantation, if necessary. Antibiotics are recommended to treat bacterial infection in cases of neutropenia.
Accurate and timely detection of Barth syndrome can aid the survival of boys born with this disorder. But if the disease progresses to severe infection and cardiac failure, it may cause the affected boys to die.
With advanced medical intervention, patients who get detected with the syndrome and get treatment at the right time, may survive into their 40s and are expected to live beyond this age. In fact, recent experience suggests that, if provided with good cardiac management, at least 75% of patients will show gradual improvement and even normalization of their cardiac function.
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