INFORMATION ON BARTH SYNDROME

Barth syndrome is a rare congenital metabolic and neuromuscular disorder that affects boys. It average affects 50 families thought the world. It affected all daughters born to an affected male. It is passed from mother to son through the sex-linked, or X, chromosome. On average 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will have symptoms. Boys with this disorder also have fewer white blood cells, which may lead to an increased risk for serious bacterial infections.

SYNONYMS OF BARTH SYNDROME

Synonyms of Barth syndrome are:

1. Cardioskeletal Myopathy.
2. Endocardial Fibroelastosis.
3. 3-Methylglutaconic Aciduria.
4. X-Linked Cardioskeletal Myopathy and Neutropenia.

CAUSES OF BARTH SYNDROME

Barth syndrome is an x-linked recessive genetic condition that means it can be transferred from mother to son. It is not necessary that a mother who is a carrier of Barth syndrome usually shows no signs or symptoms of the disorder herself. There is a 50% chance that a boy born to a female carrier will have Barth syndrome, while girls born to a carrier have a 50% chance of being carriers themselves. All daughters of a male with Barth syndrome will be carriers.

SYMPTOMS OF BARTH SYNDROME

Symptoms of Barth syndrome are:

1. Growth Retardation.
2. Cardiomyopathy.
3. Neutropenia.
4. Muscle hypoplasia and weakness.
5. Exercise intolerance.
6. 3 Methyl-Glutaconic aciduria.
7. Cardiolipin deficiency.

DIAGNOSIS OF BARTH SYNDROME

Early diagnosis is key to survival for Barth syndrome boys. A boy whose diagnosis is missed has only a 30% chance of living to age 4 years.

Diagnosis test are:

1. Urinary Organic Acid Analysis.
2. Complete Blood Count.
3. Echocardiogram.
4. Growth Retardation.
5. Other Characteristics.

TREATMENT OF BARTH SYNDROME

Bacterial infections caused by neutropenia can be effectively treated with antibiotics. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some Barth children but in others it has caused increasing muscle weakness and even precipitated heart failure.