What are the symptoms of Barth syndrome?

Barth syndrome is a genetic condition that mainly affects males. Some of the symptoms of the condition include enlarged heart, low blood cell count, weakness of muscles, and fatigue. Additionally, there can be increased levels of chemicals like 3-methyglutaconic acid and 2-ethyl hydracrylic acid in the urine or blood.

What does Barth syndrome do to the body?

Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy ), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males.

What is the survival rate of Barth syndrome?

Specifically, the survival rate was 70% for patients born after 2000 and 20% for those born before 2000. Conclusions: This survey found that BTHS outcome was affected by cardiac events and by a risk of infection that was related to neutropenia.

Is Barth syndrome life threatening?

Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles, and shorter stature in youth.

Can Barth syndrome be cured?

There is no cure or specific treatment for Barth syndrome. Treatment focuses on reducing symptoms and preventing complications. These treatments may include: physical therapy to help babies with reduced muscle tone.

How do you test for Barth syndrome?

An elevated urinary level of 3-methylglutaconic acid (3-methylglutaconic aciduria) has been recognized as a diagnostic sign of Barth syndrome. Persistent low levels of neutrophils in the blood help to confirm the diagnosis in combination with these other signs. Diagnosis may also be confirmed via genetic testing.

How do you treat Barth syndrome?

There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection.

How do you get Barth syndrome?

Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4. 5) which leads to decreased production of an enzyme required to produce cardiolipin.

What causes Alpers disease?

A change (mutation) in a gene (POLG1) causes Alpers disease. Children inherit these gene mutations from both of their parents. Defective POLG1 genes that come from both parents cause Alpers disease. Alpers disease is a type of mitochondrial disease.

Is there a cure for Alpers disease?

There is no cure for Alpers’ disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses.

What are the signs and symptoms of Barth syndrome?

These symptoms can include: Heart conditions such as arrhythmias, heart failure, and cardiomyopathy People with Barth syndrome sometimes have very distinct facial features, including prominent ears, cheekbones, and deep-set eyes. Barth syndrome is an X-linked genetic disorder, which means its inheritance pattern is linked to the X chromosome.

Can a child with Barth syndrome develop cardiomyopathy with age?

In some rare cases, cardiomyopathy present in infants with Barth syndrome has improved as the child gets older—though this is not common. Neutropenia is an abnormally low number of white blood cells called neutrophils. These cells are an important part of the immune system and the body’s ability to fight infection.

Why do people with Barth syndrome have ears?

Heart conditions such as arrhythmias, heart failure, and cardiomyopathy People with Barth syndrome sometimes have very distinct facial features, including prominent ears, cheekbones, and deep-set eyes. Barth syndrome is an X-linked genetic disorder, which means its inheritance pattern is linked to the X chromosome.

Is there a cure for Barth syndrome?

There is no cure for Barth syndrome. Treatment is usually approached case by case, though children with the condition usually need to work with a team of medical professionals to ensure all their health needs are addressed.

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