Gourt > Health > Conditions and Diseases > Rare Disorders > Barth Syndrome
Barth syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It affects at least one hundred (~ 100) worldwide families. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait. The syndrome is believed to be severely under-diagonsed and estimated to occur in 1 out of approximately 200,000 births.
The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery.
Mutations in the BTHS gene are associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. The gene is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa. It is located at Xq28; the long arm of the X chromosome. Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge.
More on [ Barth syndrome ]
Cardiomyopathy
Genetic Disorders
RT @Prayer_Network: RT @Nicothebeast Please pray for the family of my homie Mal. He succumbed to the disease Barth Syndrome at the young ...
preetofdeep (Harpreet Singh) Wed, 23 Dec 2009 09:24:20 -0000
RT @Prayer_Network: RT @Nicothebeast Please pray for the family of my homie Mal. He succumbed to the disease Barth Syndrome at the young ...
RT @Nicothebeast Please pray for the family of my homie Mal. He succumbed to the disease Barth Syndrome at the young age of 25. Rest well ..
Prayer_Network (Prayer Network) Wed, 23 Dec 2009 09:23:20 -0000
RT @Nicothebeast Please pray for the family of my homie Mal. He succumbed to the disease Barth Syndrome at the young age of 25. Rest well ..
Please pray for the family of my homie Mal. He succumbed to the disease Barth Syndrome at the young age of 25. Rest well Lil bro...
Nicothebeast (Domenic Zarrella) Wed, 23 Dec 2009 09:12:59 -0000
Please pray for the family of my homie Mal. He succumbed to the disease Barth Syndrome at the young age of 25. Rest well Lil bro...
Barth Syndrome Foundation - Promotes knowledge about this disease among families, physicians and scientists, serving as a focal point for data and research for scientists. The group offers support to families learning to cope with the disorder.
Meta Description: [ The (BSF) website offers support to affected families and individuals as well as assisting scientists to make an accurate diagnosis of Barth syndrome. An informative site dedicated to Barth syndrome. ]
Clinical Mass Spectrometry Laboratory - An article about Barth Syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management.
NINDS - Barth Syndrome Information - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Meta Description: [ Barth syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ]
The Complete Barth Syndrome Homepage - List of clinical symptoms, history of the condition, current news, and links to support groups.
