Top Barth syndrome Doctors in India

Conditions are an all-encompassing term for all diseases, disorders and illnesses. Above doctors at Max Hospital, India are the top specialists for Barth syndrome in India, India. Book a video consultation or in-hospital appointment to receive the best treatments with cutting edge technology. Learn more about Barth syndrome doctors’ qualification, background, specialization and experience. Book doctor appointments online, check OPD timings at one of the best hospitals in Max Hospital, India.

Frequently Asked Questions

Barth syndrome is a rare genetic disorder that affects males and is characterised by cardiomyopathy (weakening of the heart muscle), skeletal muscle weakness, growth delay, and low levels of certain fats in the blood.

Barth syndrome is caused by mutations in the tafazzin (TAZ) gene, which is responsible for producing an enzyme involved in the metabolism of cardiolipin, a key component of the inner mitochondrial membrane.

Barth syndrome is inherited in an X-linked recessive manner. This means that the gene mutation responsible for the condition is located on the X chromosome, and males are typically more severely affected than females.

Common symptoms include cardiomyopathy, muscle weakness and fatigue, growth delay, neutropenia (low levels of neutrophils, a type of white blood cell), and elevated levels of certain organic acids in the blood and urine.

Diagnosis involves a combination of clinical evaluation, medical history, physical examination, and genetic testing to identify mutations in the TAZ gene. Other tests, such as echocardiography, muscle biopsy, and blood tests, may also be conducted.

Currently, there is no cure for Barth syndrome. Treatment primarily focuses on managing symptoms, providing supportive care, and addressing complications such as heart failure and infections.

Yes, although there is no cure, treatment options include medication for heart function, growth hormone therapy for growth delay, physical therapy to improve muscle strength and function, and addressing neutropenia through proactive management of infections.

Life expectancy can vary depending on the severity of symptoms. With appropriate medical care and management of complications, individuals with Barth syndrome can live into adulthood. Some may even reach their 40s or 50s.

Nutritional support is essential for individuals with Barth syndrome. A balanced diet that includes adequate calories, healthy fats, and proper vitamin and mineral intake may be recommended. Consult with a registered dietitian for assistance with nutritional management.

Males with Barth syndrome can have children, but there is a 50% chance of passing the gene mutation to their daughters, who would become carriers. Sons of carrier females have a 50% chance of inheriting the condition.

Yes, ongoing research aims to better understand the underlying mechanisms of Barth syndrome, develop potential treatments, and improve overall care and management for individuals with the condition.

Yes, there are several support groups and organisations dedicated to providing information, support, and resources to individuals and families affected by Barth syndrome. Examples include the Barth Syndrome Foundation and Barth Syndrome UK.

Prenatal testing is available for families with a known TAZ gene mutation. Tests like chorionic villus sampling (CVS) and amniocentesis can be performed to analyse fetal DNA for the presence of the mutation.

Individuals with Barth syndrome should be monitored closely by a multidisciplinary medical team, including cardiologists, geneticists, and other specialists. Regular check-ups, immunisations, and prompt treatment of infections are important.

The severity of Barth syndrome can vary from person to person. While symptoms may progress over time, appropriate management and early intervention can help alleviate complications and improve overall quality of life.

Physical activities should be tailored to the individual's capabilities. Regular exercise, with the guidance of healthcare professionals, can help maintain muscle strength and overall well-being.

Some experimental treatments and clinical trials are underway to explore potential therapies for Barth syndrome. These may include gene therapy, mitochondrial-targeted therapies, and novel approaches to address specific symptoms.

Barth syndrome primarily affects cardiac and skeletal muscle function, but some individuals may experience learning difficulties or cognitive impairments. However, the extent of cognitive involvement can vary.

Yes, cardiomyopathy associated with Barth syndrome can lead to heart failure. Regular monitoring of heart function, medication, and management of heart-related complications are important components of care.

Factors such as infections, strenuous physical activities, and exposure to extreme temperatures or high altitudes may worsen symptoms in individuals with Barth syndrome. Taking necessary precautions and prompt medical attention is crucial in such situations.

FAQs reviewed by Dr. Hemant Gandhi - Associate Director - Cardiology, Cardiac Sciences, Interventional Cardiology, Cardiac Electrophysiology-Pacemaker.

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