Barth
Barth Syndrome
Barth Syndrome (pronounced: bɑːrθ sɪndroʊm) is a rare, genetic disorder primarily affecting males. It is named after the Dutch pediatrician, Peter Barth, who first described the syndrome in 1983.
Etymology
The term Barth Syndrome is derived from the name of the Dutch pediatrician, Peter Barth, who first identified and described the condition. The term "syndrome" is derived from the Greek word "σύνδρομον" (syndromon), meaning "concurrence of symptoms," or "concurrence of diseases."
Definition
Barth Syndrome is a genetic disorder that is X-linked and primarily affects males. It is characterized by cardiomyopathy (a disease of the heart muscle), neutropenia (a decrease in the number of white blood cells), muscle weakness, growth delay, and increased levels of a certain type of fat called 3-methylglutaconic acid in the body.
Related Terms
- Cardiomyopathy: A disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body.
- Neutropenia: A condition characterized by a decrease in the number of white blood cells, which are important for fighting infections.
- Genetic Disorder: A disease caused by an abnormality in an individual's DNA.
- X-linked: A term used to describe genes that are located on the X chromosome. X-linked disorders are often seen in males.
Symptoms
The symptoms of Barth Syndrome can vary, but they often include:
- Cardiomyopathy: This can lead to heart failure.
- Neutropenia: This can lead to an increased risk of infections.
- Muscle weakness: This can lead to difficulties with movement and physical activity.
- Growth delay: Children with Barth Syndrome often grow at a slower rate than other children.
- Increased levels of 3-methylglutaconic acid: This can lead to a variety of health problems.
Treatment
There is currently no cure for Barth Syndrome, but treatment can help manage the symptoms. Treatment options may include medication to manage heart problems, physical therapy to help with muscle weakness, and regular monitoring to detect and treat any potential infections.
External links
- Medical encyclopedia article on Barth
- Wikipedia's article - Barth
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