1. NINDS Barth Syndrome Information Page barth syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). More about barth syndrome, http://www.ninds.nih.gov/health_and_medical/disorders/barth.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Barth Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Barth Syndrome Information Page Reviewed 03-26-2003 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Barth Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Barth Syndrome? Barth syndrome is a rare congenital metabolic and neuromuscular disorder that affects boys. It is passed from mother to son through the sex-linked, or X, chromosome. Symptoms affect multiple systems of the body and may include changes to metabolism, motor delays, hypotonia (reduced muscle tone), delayed growth, cardiomyopathy (leading to a poorly functioning heart), weakened immune system, chronic fatigue, lack of stamina, hypoglycemia (low blood sugar), mouth ulcers, diarrhea, and varying degrees of physical and learning disability. Boys with the disorder also have fewer white blood cells (a condition called neutropenia), which may lead to an increased risk for serious bacterial infections. Barth syndrome affects at least 50 families worldwide, but there is evidence that it is underdiagnosed. On average 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will have symptoms. All daughters born to an affected male will be carriers.

2. Barth The Complete barth syndrome Homepage. Introduction. Commonly Asked Questions Comprehensive History of barth syndrome. Additional Website Links http://www.csun.edu/~hcbio033/barth.html

The Complete Barth Syndrome Homepage Introduction Commonly Asked Questions Clinical Symptoms Support Groups ... Go to the Top Last updated 06/20/00. Please direct any comments, questions, or suggestions to Troy Phipps: hbbio254@csun.edu

3. Barth Syndrome - X-linked Cardiomyopathy And Neutropenia An article about barth syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management. http://www.med.jhu.edu/CMSL/Barth_Summary.html

Barth Syndrome - X-linked Cardiomyopathy and Neutropenia Richard I. Kelley, MD, PhD Division of Metabolism, Kennedy Krieger Institute Department of Pediatrics, Johns Hopkins Medical Institutions History and Overview or " TAZ, " mutations in Barth syndrome was further supported by the finding of disabling mutations of TAZ in 14 additional Barth syndrome families [Johnston et al, 1997]. The recognition of homology of TAZ Clinical Manifestations TAZ Genetic and Molecular Pathology TAZ mutations that yield different effects in different tissues. However, in a detailed study of 14 Barth syndrome families, there was no evident phenotype-genotype correlation [Johnston et al, 1997]. To date, more than 50 different mutations in the TAZ gene have been found, of which 60% are frame-shift, stop, or splice-site mutations predicted to disrupt completely the function of the Barth proteins. Another 30% lead to a change in the charge of the protein. A substantial fraction of the mutations are de novo mutations, in a proportion not inconsistent with the one-third new mutation rate predicted for X-linked recessive diseases (Haldane fraction) (I. Gonzales, R. Kelley, unpublished). Epidemiology Differential Diagnosis Diagnostic Evaluation Prognosis and Complications Management Literature Cited Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. 1993. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 45:327-334.

4. Welcome To The Barth Syndrome Web Site The (BSF) website offers support to affected families and individuals as well as assisting scientists to make an accurate diagnosis of barth syndrome. http://www.barthsyndrome.org/

Welcome About Barth Syndrome About Barth Syndrome Foundation Site Index Contact Us ... Click here to search my site Welcome to the official Barth Syndrome Foundation. If you are new to the BSF or to Barth Syndrome, please follow the links at the left to find your way to a wealth of information on this rare condition and the Barth Syndrome Foundation. What's New Watch this section for links to new items on the site. It's almost time for the 2004 BSF Conference Time is short since the conference is not far away now. The agenda for the conference will give you a great idea of all that there is to learn and do. The Coronado Springs Resort in Orlando, Florida is a terrific location. There's not a moment to lose. Book your calendars for July 8-12, 2004 Register for the family conference Register for the Scientific and Medical conference Hotel rooms need to be reserved by June 7. Registering for the conference does not book your room. Please see

5. NORD - National Organization For Rare Disorders, Inc. General Discussion. barth syndrome is a genetic disorder that appears to occur exclusively in males. Although barth syndrome typically becomes apparent during infancy or http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth Syndrom

6. Welcome To The Barth Syndrome Web Site 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 About http://www.barthsyndrome.com/

Welcome About Barth Syndrome About Barth Syndrome Foundation Site Index Contact Us ... Click here to search my site Welcome to the official Barth Syndrome Foundation. If you are new to the BSF or to Barth Syndrome, please follow the links at the left to find your way to a wealth of information on this rare condition and the Barth Syndrome Foundation. What's New Watch this section for links to new items on the site. It's almost time for the 2004 BSF Conference Time is short since the conference is not far away now. The agenda for the conference will give you a great idea of all that there is to learn and do. The Coronado Springs Resort in Orlando, Florida is a terrific location. There's not a moment to lose. Book your calendars for July 8-12, 2004 Register for the family conference Register for the Scientific and Medical conference Hotel rooms need to be reserved by June 7. Registering for the conference does not book your room. Please see

7. NINDS - News And Events Health. Sorry! There are no press releases for barth syndrome. Use your browser s Back button to return to your previous activity. http://www.ninds.nih.gov/health_and_medical/news.htm?url=/health_and_medical/dis

8. Major Aspects Of Growth In Children (MAGIC) An organization providing support and education regarding growth disorders in children and related adult disorders. Includes Growth Hormone Deficiency, barth syndrome, Congenital Adrenal Hyperplasia, Precocious Puberty, RussellSilver Syndrome, Turner Syndrome, Thyroid Disorders Septo Optic Dysplasia, McCune-Albright Syndrome, and Rare Disorder/Hypophosphatasia. http://www.magicfoundation.org/

9. Barth Syndrome Clinical Mass Spectrometry Laboratory. Kennedy Krieger Institute. 707 North Broadway. Baltimore, Maryland 21205. barth syndrome (Xlinked Cardiomyopathy). http://www.hopkinsmedicine.org/cmsl/Barth_Syndrome.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Maryland 21205 Barth Syndrome (X-linked Cardiomyopathy) Description of Syndrome Publication Synopsis (OMIM) Bibliography with Abstracts ... Family Support Group

10. Barth Syndrome of Syndrome. Publication Synopsis...... Baltimore, Maryland 21205. barth syndrome (Xlinked Cardiomyopathy) http://www.med.jhu.edu/CMSL/Barth_Syndrome.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Maryland 21205 Barth Syndrome (X-linked Cardiomyopathy) Description of Syndrome Publication Synopsis (OMIM) Bibliography with Abstracts ... Family Support Group

11. Barth Syndrome Foundation Kennedy Krieger Institute 707 North Broadway. Baltimore, Maryland 21205. barth syndrome Foundation For information about the barth syndrome Foundation contact http://www.hopkinsmedicine.org/cmsl/Barth_Family.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Maryland 21205 Barth Syndrome Foundation For information about the Barth Syndrome Foundation contact: Shelly Bowen - General Enquiries: sbowen@barthsyndrome.org Anna Dunn - Family Liason: adunn@barthsyndrome.org kmccurdy@barthsyndrome.org Barth Syndrome Foundation Homepage Return to CMSL Homepage

12. About Barth Syndrome 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 Barth http://www.barthsyndrome.com/home.html

Click here to search my site Barth Syndrome is a rare but serious genetic disorder that affects males. The characteristics (signs and symptoms) of Barth Syndrome consist of the following in varying degrees: Neutropenia Weakness in the immune system, specifically a reduction in the number of "neutrophils", a type of white blood cell that is most important for fighting bacterial infections. Neutropenia places Barth boys at an increased risk of acquiring serious infections such as bacterial pneumonia and skin abscesses Cardiomyopathy Heart muscle weakness. This, combined with a weakened immune system, represents the greatest threat to boys with Barth syndrome. Muscle Weakness and General Fatigue All muscles, including the heart, have a cellular deficiency which limits their ability to produce energy, causing extreme fatigue during activities requiring strength or stamina, from walking to writing to growing. Failure-to-Thrive and Growth Retardation Most boys with Barth syndrome are also below-average in weight and height, often substantially so. The poor growth of Barth boys is often assumed to be evidence of poor nutrition or other secondary effects of a chronic illness, a situation termed "failure to thrive". This is rarely the cause, and the common nutritional treatments for failure to thrive usually not needed, and in some cases contra-indicated for Barth syndrome children.

13. Questions Commonly Asked Questions. Who first described barth syndrome? He and his colleagues are credited with first describing the features of barth syndrome in 1981. http://www.csun.edu/~hcbio033/Questions.html

Commonly Asked Questions Who first described Barth Syndrome? Barth Syndrome is named after Dr. P.G. Barth who is affiliated with Emma Children's Hospital/University of Amsterdam Academic Medical Center in Amsterdam, Netherlands. He and his colleagues are credited with first describing the features of Barth Syndrome in 1981. The description of the phenotype (signs and symptoms) of Barth Syndrome was expanded by Dr. Richard I. Kelley at the Kennedy Krieger Institute in Baltimore, Maryland, who first described the excess excretion of certain organic acids in the urine of patients with Barth Syndrome. And the G4.5 gene was located and sequenced in 1996 by Silvia Bione et al. at the Institute of Genetics, Biochemistry and Evolution in Pavia, Italy. How common is Barth Syndrome? This disease is thought to be very rare. However, as is often the case with rare disorders, increased awareness of the disorder among medical practitioners and the public may lead to increased reports of its incidence. Since so little is known about Barth Syndrome at the biochemical and molecular level, it is possible that many cases go undetected. At present, there are known to be two families with affected family members in Australia, and a few dozen in the United States, Canada, and Europe. A recent paper from England found 5 new boys with Barth syndrome in one hospital in 7 years. They speculate that Barth is underdiagnosed and are conducting a frequency study (See Cantlay, et. al. J. Pediatr. 1999;135(3):311-315).

14. Barth Syndrome - Information / Diagnosis / Treatment / Prevention home rare disorders barth syndrome barth syndrome. Information • Diagnosis • Treatment • Prevention. External links (marked http://www.healthcyclopedia.com/rare-disorders/barth-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... rare disorders > barth syndrome Barth Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Health News Web Directory: Related Topics: Cardiovascular Disorders/Heart Disease/Cardiomyopathy Genetic Disorders Health News: Search millions of published articles for news on Barth Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: 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. Clinical Mass Spectrometry Laboratory An article about Barth Syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management.

15. Barth Syndrome Trust The BST website offers support to affected families and individuals as well as assisting scientists to make an accurate diagnosis of barth syndrome. http://www.barthsyndrome.org.uk/

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16. Barth Syndrome The heart diseases the Pediatric Cardiology Research Laboratories are currently investigating are ARVD, barth syndrome, brugada, syndome, dilated cardiomyopathy http://www.bcm.tmc.edu/pedi/cardio/research/barthsyndrome.html

Pediatric Cardiology Lab Home BCM Public Site BCM Intranet :. Barth Syndrome .: What is Barth Syndrome : : How common is Barth Syndrome : .: What are the causes of Barth Syndrome :. Initially described as X-linked cardioskeletal myopathy with abnormal mitochondria and neutropenia (low white blood count), this disorder typically presents in male infants as CHF associated with neutropenia and 3-methylglutaconic aciduria. Mitochondrial dysfunction is noted on EM and electron transport chain biochemical analysis. Echocardiographically these infants typically have left ventricular dysfunction with left ventricular dilation, endocardial fibroelastosis (EFE), or a dilated hypertrophic left ventricle. In some cases these infants succumb due to CHF/sudden death or sepsis due to white blood cell dysfunction. The majority of these children survive infancy and do well clinically, although dilated cardiomyopathy (DCM) usually persists. In some cases, cardiac transplantation has been performed. Histopathologic evaluation typically demonstrates the features of DCM, although EFE may be prominent and the mitochondria are abnormal in shape and abundance.

17. Barth Syndrome barth syndrome is a genetic disorder that appears to occur exclusively in males. National Organization for Rare Disorders, Inc. barth syndrome. http://www.bchealthguide.org/kbase/nord/nord1116.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord1116"; var hwDocTitle="Barth Syndrome"; var hwRank="1"; var hwSectionHWID="nord1116"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Barth Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cardioskeletal Myopathy, Barth Type Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria Endocardial Fibroelastosis, Type 2 (EFE2) 3-Methylglutaconic Aciduria, Type II (MGA, Type II) X-Linked Cardioskeletal Myopathy and Neutropenia Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Dilated Cardiomyopathy, Type 3A Isolated Noncompaction of the Left Ventricular Myocardium (INVM) X-linked Endocardial Fibroelastosis X-linked Dilated Cardiomyopathy Acute Viral Cardiomyopathy Associated Disorders of Mitochondrial Metabolism (General) General Discussion Barth syndrome is a genetic disorder that appears to occur exclusively in males. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course may vary considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils) that help to fight bacterial infections (known as neutropenia); and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, particularly 3-methylglutaconic acid (3-methylglutaconic aciduria/acidemia).

18. Barth Syndrome barth syndrome Important It is possible that the main title of the report barth syndrome is not the name you expected. Please check http://my.webmd.com/hw/health_guide_atoz/nord1116.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Barth Syndrome Important It is possible that the main title of the report Barth Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cardioskeletal Myopathy, Barth Type Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria Endocardial Fibroelastosis, Type 2 (EFE2) 3-Methylglutaconic Aciduria, Type II (MGA, Type II) X-Linked Cardioskeletal Myopathy and Neutropenia Disorder Subdivisions None General Discussion Barth syndrome is a genetic disorder that appears to occur exclusively in males. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course may vary considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils) that help to fight bacterial infections (known as neutropenia); and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, particularly 3-methylglutaconic acid (3-methylglutaconic aciduria/acidemia).

19. Health Library - barth syndrome. Synonyms Disorder Subdivisions General Discussion Resources barth syndrome is a genetic disorder that appears to occur exclusively in males. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

20. Kennedy Krieger Institute Barth Syndrome KKI Logo. Print this page. barth syndrome. barth syndrome is a rare, sexlinked genetic disorder of lipid metabolism that affects males. http://www.kennedykrieger.org/kki_diag.jsp?pid=2170

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