What does BSF mean in FOUNDATIONS

Barth Syndrome (also known as Cardioskeletal Myopathy with Neutropenia) is a rare genetic disorder that primarily affects males, though females may also be affected. It is typically characterized by cardiac and skeletal muscle disease, recurrent infections, low neutrophil count, failure to thrive and other symptoms.

Barth Syndrome primarily affects males and can be inherited in an X-linked recessive pattern. It is caused by a mutation in the TAZ gene located on the X chromosome. Family members of someone with the syndrome should be monitored for signs and symptoms.

Common signs and symptoms of Barth Syndrome include: cardiac problems (such as cardiomyopathy or heart rhythm disturbances); low neutrophil count; recurrent infections; skeletal muscle weakness; poor growth; fatigue; hypotonia; lactic acidosis; increased fatty acids in the blood; reduced oxygen delivery to tissues due to abnormal functioning of mitochondria (the energy producing centers in cells); and an enlarged liver or spleen.

The diagnosis of Barth Syndrome is based on clinical evaluation along with laboratory tests that measure levels of creatine kinase (CK) enzyme, red blood cell indices, electrolytes, metabolites, and proteins as well as genetic testing to identify mutations in the TAZ gene.

There is no cure for Barth Syndrome but treatments exist that can help manage symptoms such as medication for cardiac problems, physical therapy for muscle weakness or hypotonia, nutritional supplementation for poor growth and regular antibiotics to reduce recurrent infections. Additionally vitamin E supplements are recommended given their antioxidant properties which may protect against further damage from mitochondrial dysfunction.