What is Barth's syndrome?
Barth's syndrome, or BTHS, is a rare, serious, sometimes fatal genetic disorder that affects men. Barth's syndrome, inherited from the mother, changes the BTHS gene into a X-chromosome and can cause heart problems, immunity and the ability to prosper. Its onset is usually observed at birth or within a few months after birth.
The early diagnosis of Barth syndrome is complicated but critical. It is believed that Barth's syndrome occurs in approximately one of every 200,000 birth, but is considered to be highly insufficiently diagnosed because of its complicated nature. Diagnostic tools include blood work for determining the number of white blood cells, urine analysis to determine the presence of an increased amount of organic acid, which was usually observed in BTHS, echocardiogram or heart ultrasound to assess the structure and function or state of the heart.
Some serious symptoms of Barth syndrome may includeObserve cardiomyopathy or heart defects and weakness, neutropenia or lack of white blood cells, which reduces the body's ability to combat infections and abnormal increase in urine acid. Other problems that may occur include a decrease in appetite and frequent diarrhea, which can lead to slow weight gain, repeating ulcers, strenuous breathing, extreme fatigue, chronic headaches or body pain and slight learning disorders. Boys suffering from Barth syndrome can prove hypotonia or bad muscle tone and control and shortened figure or small body. There may also be osteoporosis or bone softening and hypoglycemia.
Complications of Barth syndrome include serious bacterial infections because the body shows reduced ability to fight infections and congestive heart failure, impairing the body's ability to provide sufficient blood flow to meet the needs of the Andes body.
There is no special treatment or treatment for BARTH's syndrome, so relief and control of symptoms is essential. Continuous monitoring of symptoms and treatment of heart symptoms, infection and nutritional problems that occur and change diet if necessary are common courses. Sometimes surgery can correct heart defects. In good monitoring of heart or heart, at least 75% of patients show a gradual improvement that increases the chance to normalize the overall heart function. Quick evaluation and treatment of infectious processes can also increase life expectancy.