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Barth Syndrome: Treatment, Cost and Side Effects

Last Updated: Dec 20, 2024

What is the Barth Syndrome?

Barth Syndrome is a genetic neuromuscular metabolic disease inherited through X-linked recessive mutation in the taz gene. Symptoms of Barth Syndrome usually appear during infancy, however, progress of the condition and further symptoms vary widely based on a number of factors. The condition is broadly associated with skeletal and cardiac muscles, low levels of a type of white blood cells called neutrophils, and retardation of growth.

Symptoms of Barth’s Syndrome includes weakening of heart muscles causing the ventricles to enlarge. This leads to improper pumping action and lower volumes of blood supplied to the body and lungs or heart failure. Barth’s Syndrome also affects skeletal muscles causing them to have reduced tone and become weak. Weakened muscles and lowered tone causes inability of an affected child to develop motor skills. Weakened facial muscles can cause abnormal facial expressions. Lowered levels of neutrophils in blood can cause reduced immunity and recurrent infections. Combination of the above symptoms cause affected children to gain weight at a lower than expected rate, have mild learning disabilities, have repeated infectious diseases, and may fail to thrive and survive. The condition is diagnosed by biochemical tests to identify abnormally high levels of 3-methylglutaconic acid in blood, which does not directly affect the extent of the condition or its symptoms, but is a marker for Barth’s Syndrome.

Barth’s Syndrome is an X-linked recessive disease and has no complete cure. Treatment for the condition involves treating the specific symptoms as and when they appear.

How is the Barth Syndrome treatment done?

Usually, there is no particular treatement for curing the problem of Barth Syndrome as barth syndrome is a genetic disorder. However, the treatment for Barth’s Syndrome is otherwise targeted towards minimizing and managing the symptoms as and when they appear. The treatment for this condition is conducted by a panel of specialists including pediatricians, cardiologists, hematologists, bacterial pathologists, physical and occupational therapists and many other experts. Patients of Barth’s Syndrome displaying symptoms of heart failure are put under cardiac therapy comprising of diuretic medications and digitalis medications to improve blood circulation and pumping ability of the heart. If the therapy is begun early in infancy, heart functioning improves enough for these infants to be taken off cardiac therapy. Abnormally reduced neutrophil count is countered with antibiotic treatment and monitoring to prevent onset of infection. In some cases, therapeutic approaches may be undertaken to induce white blood cell formation from the bone marrow.

Who is eligible for the treatment? (When is the treatment done?)

There is no complete cure for Barth’s Syndrome and treatment is undertaken to manage the symptoms of the condition when they appear. These symptoms include poor muscle tone, weak muscles, low growth rate, abnormal facial expressions, recurrent bacterial infections due to low neutrophil count, etc.

Who is not eligible for the treatment?

Some diseases shows symptoms similar to those appearing in Barth’s Syndrome. In these cases, simply tackling the symptoms may not resolve them. These symptoms are cured only if those diseases are cured.

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Are there any side effects?

There may be some side effects which are associated with the treatment. Usually, the treatment is targeted towards specific symptoms as and when they appear. The condition itself cannot show any symptoms as it is a genetic disorder. Hence it is possible for the symptoms to appear later on in life as well and treatment is focused on curing the symptoms alone.

What are the post-treatment guidelines?

Since Barth Syndrome is a genetic disorder and there is no treatment focused on curing the condition altogether, there is no post treatment guidelines available as well. Barth Syndrome can only be managed with the help of treating the symptoms as soon as they appear. Taking care of your health and diet in general is necessary for those who are affected by this genetic condition. Individuals and family members of the patients are supposed to make sure that the person suffering from Barth Syndrome should have access to palliative care while getting the treatment for the condition as well.

How long does it take to recover?

Barth’s Syndrome cannot be cured completely since it is a congenital disease. Symptoms that appear are treated and recovery depends on the type and extent of the symptoms.

What is the price of the treatment in India?

Cost of treatment for Barth’s Syndrome depends on the symptoms that appear and usually ranges between Rs. 1,000 and Rs. 10,000. Cost may go higher for recurring appearance of symptoms or if further complications develop.

Are the results of the treatment permanent?

Results of the treatment are not permanent. While some symptoms may be resolved, others may appear later.

What are the alternatives to the treatment?

Some alternative treatment options depending on the symptoms are available, including herbal medications, therapy, home remedies, etc. However, these treatment methods have limited efficacy.

References

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Written ByDr. Rahul Gupta MD - Internal Medicine,MBBS,DM - Cardiology,Fellow European Society of CardiologyCardiology
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