Barth syndrome
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" (sýndromon), meaning "concurrence of symptoms," or "running together."
Definition
Barth Syndrome is a X-linked recessive genetic disorder characterized by cardiomyopathy, neutropenia, muscle weakness, growth delay, and increased levels of a certain type of fat called 3-methylglutaconic acid in the body.
Symptoms
The symptoms of Barth Syndrome can vary greatly among affected individuals. They may include:
- Cardiomyopathy: A disease of the heart muscle that can lead to heart failure.
- Neutropenia: A condition characterized by low levels of neutrophils, a type of white blood cell, leading to an increased risk of infection.
- Muscle weakness: Affected individuals often have reduced muscle tone (hypotonia) and muscle weakness.
- Growth delay: Affected individuals may experience delayed growth and development.
- Increased levels of 3-methylglutaconic acid: This is a characteristic biochemical abnormality in individuals with Barth Syndrome.
Diagnosis
Diagnosis of Barth Syndrome is based on the presence of characteristic clinical features, detection of increased levels of 3-methylglutaconic acid in the urine, and molecular genetic testing confirming a mutation in the TAZ gene.
Treatment
Treatment of Barth Syndrome is focused on managing the symptoms and preventing complications. This may include medications to manage heart disease, therapies to boost the immune system, and physical and occupational therapy to improve muscle strength and coordination.
See Also
- Genetic disorder
- Cardiomyopathy
- Neutropenia
- Muscle weakness
- Growth delay
- 3-methylglutaconic acid
- TAZ gene
External links
- Medical encyclopedia article on Barth syndrome
- Wikipedia's article - Barth syndrome
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