Barth Syndrome is a rare genetic disorder that primarily affects males. It is characterized by a range of symptoms including cardiomyopathy (weakening of the heart muscle), skeletal muscle weakness, growth delay, and low levels of neutrophils (a type of white blood cell).
Caused by mutations in the tafazzin gene, Barth Syndrome leads to impaired production of cardiolipin, a vital lipid found in the inner mitochondrial membrane. This disruption affects the energy production process within cells, leading to the various symptoms associated with the syndrome.
Individuals with Barth Syndrome may experience fatigue, shortness of breath, muscle weakness, delayed motor skills, and feeding difficulties during infancy. They are also at an increased risk of infections, heart problems, and growth issues.
While there is currently no cure for Barth Syndrome, treatment focuses on managing symptoms and improving quality of life. This may involve medications, physical therapy, cardiac interventions, and nutritional support.
Barth Syndrome is a complex condition that requires ongoing medical care and support. Research efforts are aimed at better understanding the disorder and developing potential therapies to address its underlying causes.