Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy)

Barth syndrome is an ultra-rare form of mitochondrial disease associated with heart problems, muscle weakness, delayed growth, chronic fatigue, and low levels of white blood cells that fight off infection. The disease’s incidence rates are estimated to be between 1 in 300,000 to 400,000. It primarily impacts males.

Symptoms: Skeletal myopathy, cardiomyopathy, short stature, and neutropenia

Cause: X-linked recessive

Source: Dr. J. Christodoulou; Barth syndrome: clinical observations and genetic linkage studies; American Journal of Medical Genetics; 1994; 50(3); 255-64

Links: Barth Syndrome Family Network http://www.barthsyndrome.org/
https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome