Barth Syndrome

Barth syndrome is a r ar serious and sometimes fatal genetic disorder that affects males. This disease is patrimonial from the mother; Barth syndrome alters the BTHS gene in the X-chromosome and croup cause problems with the boldness, immunity, and the males ability to thrive. Its offpouring is typically seen at birth or within a fewer months of birth. It is thought that Barth syndrome issue forths in approximately one out of every(prenominal) 200,000 births, but it is thought to be highly under-diagnosed referable to its abstruse nature. The syndrome was named after Dr. Peter Barth in the Netherlands for his research and baring in 1983. He described a pedigree chart, screening that this is an inherited trait. There is currently no cure or particular(prenominal) treatment for Barth syndrome. Instead, treatment focuses on reducing the symptoms and preventing complications, such as infections. Medications, called antibiotics, are used to treat bacterial infections, co mmonly associated with Barth syndrome. These medications vote down the disease-causing bacteria. The exact showcase, dose, and duration of treatment depend on the type of infections, as well as the patients age and boilersuit health.

around serious symptoms of Barth syndrome can include cardiomyopathy or heart defects and weakness, neutropenia, or a deficiency in etiolate line cells which decreases the ability of the body to fight infections, and an abnormal addition in an organic acid in the urine. Other problems that can occur include a decrease in craving and haunt diarrhea, which can lead to slow weight g ain, recurrent ulcers, big(a) breathing, e! xtreme fatigue, chronic headaches or body aches, and whacky discipline disorders. Boys who suffer this disease can reduce latent aversion or poor muscle tone and control, and a amputate down stature or small body. To date, there are no good studies of the population or birth incidence of Barth syndrome; all the same probably fewer than 10 spick-and-span Barth infants are place each year in the unite States, which suggests an incidence...If you want to total a full essay, order it on our website: OrderCustomPaper.com

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