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Dilated cardiomyopathy is often present at birth or develops within the first month of life in males with Barth syndrome. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in certain regions of the heart muscle, which leads to cardiac dysfunction. Heart disease can cause heart disease in people with Barth syndrome. In rare cases, the cardiomyopathy improves over time, and affected people have no signs of heart disease. Neutropia occurs in the majority of males with Barth syndrome. Normal to low white blood cell counts can be consistently low, can range from normal to low, or can fluctuate between normal and low occurrences. Some boys with Barth syndrome experience a growth spurt in puberty and are of average height as adults, but many men with Barth syndrome have short stature in adulthood. Males with Barth syndrome have distinctive facial features, including prominent cheeks. Males with Barth syndrome have elevated levels of a chemical called 3-methylglutaconic acid in their blood and urine. Barth syndrome is one of a number of metabolic disorders that can be traced by elevated levels of 3-methylglutaconic acid in urine. Despite the fact that most aspects of Barth syndrome are present at birth or in infancy, affected individuals are unlikely to experience health problems until later in life. The time at which people with Barth syndrome have symptoms or are diagnosed varies greatly. Males with Barth syndrome have a reduced life expectancy.
Most people with DCMA syndrome experience dilated cardiomyopathy, which is a condition that increases the heart and reduces it from pumping blood properly, from infant to early childhood. Some of the affected individuals also have long QT syndrome, which is a heart disease that causes the cardiac muscle to take longer than normal to recover between beats. Heart problems with heart disease improve over time; however, in the majority of cases of DCMA syndrome, affected individuals do not live past childhood due to heart disease. A small minority of people with DCMA syndrome have no heart disease at all. Children with DCMA syndrome have trouble with coordination and balance by age 2, according to experts. These mobility issues may lead to motor skills such as standing and walking, but older children with DCMA syndrome may walk without assistance. Most people with DCMA syndrome suffer with heart and mobility difficulties, the majority of people with DCMA syndrome suffer early before and after birth, resulting in short stature. Many males with DCMA syndrome have genital abnormalities, including undescended testes or the urethra opening on the penis' underside. One of a string of metabolic disorders that can be identified by elevated levels of 3-methylglutaconic acid in urine is DCMA syndrome. People with DCMA syndrome also have elevated urinary levels of 3-methylglutaric acid, which is also present in urine.
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