Introduction
Barth syndrome is a rare condition characterized by dilated cardiomyopathy, skeletal myopathy, neutropenia, and short stature. Barth syndrome occurs almost exclusively in males.
Symptoms
Dilated cardiomyopathy is often present at birth or develops within the first months of life. In some cases, the cardiomyopathy improves over time. Skeletal myopathy is usually noticeable from birth and causes low muscle tone (hypotonia). The muscle weakness often causes delay of motor skills, also individuals tend to experience extreme fatigue during strenuous physical activity. Most males with Barth syndrome have low levels of white blood cells, so affected individuals have an increased risk of recurrent infections.
Causes
Barth syndrome is caused by mutations in the TAZ gene.
Prevalence
1:300’000
Links
https://www.barthsyndrome.org.uk