Dilated cardiomyopathy with ataxia syndrome

Dilated cardiomyopathy with ataxia syndrome, often shortened to DCMA syndrome, is a rare inherited condition that affects the heart, movement and several other body systems. It is caused by mutations in the DNAJC19 gene, which makes a protein found in mitochondria, the energy-producing parts of cells, and it is inherited in an autosomal recessive pattern. Beginning in infancy or early childhood, most people develop dilated cardiomyopathy, in which the heart muscle weakens and enlarges and cannot pump blood well. Some also have long QT syndrome, an irregular heartbeat that can cause fainting or sudden death. By age two, children show problems with coordination and balance. Most also grow slowly and have short stature, and many have mild intellectual disability. Other features can include undescended testes or hypospadias in males, small red blood cells with anemia, fat buildup in the liver and optic nerve degeneration. The condition is one of the 3-methylglutaconic acidurias, and urine contains raised levels of 3-methylglutaconic acid. About thirty cases have been identified in the Dariusleut Hutterite population of the Canadian Great Plains.