What is Barth Syndrome?
Barth syndrome is a very rare hereditary disease that usually occurs in men and occurs in childhood.
They are carried through maternal genes, but the mother does not give any signs or symptoms. It occurs in male infants with a wide range of symptoms and signs. The families of the individuals who are caught in this syndrome must also be screened.
Barth Syndrome Symptoms
Barth’s disease manifestation usually occurs in childhood, but it can occur in rare cases when the symptoms develop in older ages. The most common symptoms are:
- Cardiological problems and weakness in heart muscles
- Slow and weak muscle tone
- Pneumonia and similar infections
- Abnormalities in skeletal muscles
- Fatigue, fatigue and shortness of breath
- Learning disability
- Unable to reach normal weight in normal expected time
Barth Syndrome What are the Reasons?
The answer to the question of Barth Syndrome is hidden in mutations on the way we give the name TAZ. Because of the mutations that occur in the TAZ gene, a reduced or lost version of the protein function that we call tazaffin is produced.
Tazaffins are responsible for the formation of the substance that affects the function of mitochondria we call cardiolipin. Naturally, loss of mitochondrial function will occur and physiological functioning will deteriorate.
Barth Syndrome Treatment
No definitive treatment of Barth syndrome has yet been found. At this time, our main treatment approach for this disease is to remove the existing symptoms , reduce and stop the progression of the disease. This approach should be implemented by your doctor in a planned way.
Drugs Used in Barth Syndrome
The drugs we use most often in Barth Syndrome are antibiotics. In this way, it is aimed to prevent bacterial infections. For cardiac problems, the cardiology department should be thoroughly examined and the necessary pharmacological treatment should be decided after that. Patients should be directed to dietitian in addition to their pharmacological treatment from their doctor. Properly prepared diet is an integral part of pharmacological treatment.
Life Expectancy in Barth Syndrome
Life expectancy in these patients is closely related to when the disease is diagnosed, how long before it is diagnosed, and how progressive the disease is. Often it can result in death after years if the infection persists and cardiac problems persist. So he must be under control.
Life expectancy is on average 20-30 years in these patients. However, this law is not in force and can be extended with good care and strict control.
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