Barth+Syndrome-Donielle

Barth Syndrome BTHS **Description: ** Barth Syndrome is a disorder that is rare and it is an X-linked disorder that the symptoms are found in the males; however, the woman can be carriers. This effects the lipid (how quick you burn up fat) metabolism (produces energy), and it also increases the risks for bacterial infections. Also being heavy will increase the chance to having Barth Syndrome.

**Inheritance: ** BTHS is an X-linked genetic condition passed from the mother to son through the X chromosome. A mother who is a carrier of Barth Syndrome shows no signs or symptoms of the disorder herself.

**Symptoms: ** Some symptoms may include: · Skeletal Myopathy · Cardiomyopathy · Short Stature · Neutropenia( number of reduce white blood cells) · Muscle Weakness · Fatigue · Growth Delay

**Daily Life: **

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**Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">The patents with Barth Syndrome the get “cardiolipin” a special lipid that is to the energy metabolism

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">There is no specific treatment for Barth Syndrome but doctor’s have a way to treat the patents to live a happy life. There are many infections that can be caused by neutropenia, which the doctors can treat that with an antibiotic. Now with the cell production by the bone marrow can be treated by the drug granulocyte. Heart control medicine can help the heart problems caused by Barth Syndrome.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">There is a lot of research done by the doctors. They research on the mitochondrial dysfunction, also they research the inborn errors of the metabolism. When the doctors research the inborn errors of the metabolism and try to understand the metabolic and the biochemical abnormalities. When the doctors do all this research they learn more about heart disease, muscle weakness, and other problems in the body.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Boys with Barth Syndrome are presented with the disease called hypotonia before diagnosed with BTHS. · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">This does not appear in more than one group · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Most children with Barth Syndrome do not show the worst signs of BTHS

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