Advanced searches left 3/3

Barth Syndrome - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 10 December 2022

* If you want to update the article please login/register

Barth syndrome

Barth syndrome is almost exclusively found in males. Whether infants with Barth syndrome, dilated cardiomyopathy is often present at birth or develops within the first months of life in males with Barth syndrome. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in certain portions of the heart muscle, which contributes to the cardiomyopathy. Heart abnormalities can cause heart disease in people with Barth syndrome. The majority of males with Barth syndrome have neutropenia. The white blood cell counts can be consistently poor, they can change from normal to low, or can fluctuate between normal and low. Some boys with Barth syndrome have a growth spurt in puberty and are of average height as adults, but some men with Barth syndrome have short stature in adulthood. Males with Barth syndrome have distinctive facial features, such as prominent cheeks. Males with Barth syndrome have elevated amounts of a chemical called 3-methylglutaconic acid in their blood and urine. Barth syndrome is one of a variety of metabolic disorders that can be diagnosed 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 when people with Barth syndrome experience symptoms or are diagnosed varies greatly. Males with Barth syndrome have a reduced life expectancy.

Source link: https://medlineplus.gov/genetics/condition/barth-syndrome


Dilated cardiomyopathy with ataxia syndrome

Dilated cardiomyopathy with ataxia syndrome is a hereditary disease that causes heart disease, mobility difficulties, and other bodily functions. Most people with DCMA syndrome have dilated cardiomyopathy, which is a disease that debilitates and expands the heart, preventing it from pumping blood properly. 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 recharge between beats, according to some. Heart problems improve over time, but in most cases of DCMA syndrome, affected individuals do not live beyond childhood as a result of heart failure. A small minority of people with DCMA syndrome have no heart problems at all. Children with DCMA syndrome have a difficult time with coordination and balance by age 2, and they have a difficult time with coordination and balance. These mobility difficulties can delay motor skills such as standing and walking, but older children with DCMA syndrome can walk without assistance. DCMA syndrome patients suffer with heart disease and mobility difficulties, most people with DCMA syndrome develop slowly before and after birth, contributing to short stature. Many males with DCMA syndrome have genital abnormalities such as undescended testes or the urethra opening on the penis' underside. DCMA syndrome has been attributed to elevated amounts of 3-methylglutaconic acid in the urine, which is related to elevated levels of a drug called 3-methylglutaconic acid. People with DCMA syndrome also have elevated urine levels of 3-methylglutaric acid, which is also present in other substances.

Source link: https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions