41. MedlinePlus Medical Encyclopedia: Friedreich's Ataxia friedreich s ataxia. kyphoscoliosis may develop. Individuals with friedreich s ataxia may also have hammer toe and high arches. Heart disease http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Friedreich's ataxia Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Central nervous system Alternative names Return to top Spinocerebellar degeneration Definition Return to top Friedreich's ataxia is an inherited form of progressive dysfunction of the cerebellum (the part of the brain responsible for movement and complex behavior), spinal cord, and peripheral nerves. Causes, incidence, and risk factors Return to top Friedreich's ataxia is an autosomal recessive condition, which means that a person must inherit the defective gene from both parents in order to be affected. It is a polyneuropathy, which means that there is damage to multiple nerves The condition affects 1 in 50,000 people. Symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination, muscle movement, and some sensory functions. Vision, particularly color vision, is often mildly affected. Hearing loss occurs in about 10% of patients. Symptoms generally begin in childhood before puberty. Early symptoms include an

42. Medical Encyclopedia: Friedreich's Ataxia (Print Version) Medical Encyclopedia friedreich s ataxia. URL Individuals with friedreich s ataxia may also have hammer toe and high arches. Heart http://www.nlm.nih.gov/medlineplus/print/ency/article/001411.htm

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Medical Encyclopedia: Friedreich's ataxia URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm Alternative names Spinocerebellar degeneration Definition Friedreich's ataxia is an inherited form of progressive dysfunction of the cerebellum (the part of the brain responsible for movement and complex behavior), spinal cord, and peripheral nerves. Causes, incidence, and risk factors Friedreich's ataxia is an autosomal recessive condition, which means that a person must inherit the defective gene from both parents in order to be affected. It is a polyneuropathy, which means that there is damage to multiple nerves The condition affects 1 in 50,000 people. Symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination, muscle movement, and some sensory functions. Vision, particularly color vision, is often mildly affected. Hearing loss occurs in about 10% of patients. Symptoms generally begin in childhood before puberty. Early symptoms include an unsteady gait, changes in speech, loss of reflexes, and jerky eye movements.

43. InteliHealth: Friedreich's Ataxia referenced in an AZ format. friedreich s ataxia. Health A to Z, Reviewed by the Faculty of Harvard Medical School friedreich s ataxia http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/11087.html

chrome_imgPreload('gifChr_mid_but_home_mo_1','http://img.intelihealth.com/i/C/Chr_mid_but_home-o.gif'); chrome_imgPreload('gifChr_mid_but_comm_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_comm-o.gif'); chrome_imgPreload('gifChr_mid_but_dental_mo_3','http://img.intelihealth.com/i/C/Chr_mid_but_dental-o.gif'); chrome_imgPreload('gifChr_mid_but_drug_mo_4','http://img.intelihealth.com/i/C/Chr_mid_but_drug-o.gif'); chrome_imgPreload('gifChr_mid_but_askexpert_mo_5','http://img.intelihealth.com/i/C/Chr_mid_but_askexpert-o.gif'); chrome_imgPreload('gifChr_mid_but_medical_mo_6','http://img.intelihealth.com/i/C/Chr_mid_but_medical-o.gif'); chrome_imgPreload('gifChr_mid_but_chats_mo_7','http://img.intelihealth.com/i/C/Chr_mid_but_chats-o.gif'); chrome_imgPreload('gifchr_mid_but_news_mo_8','http://img.intelihealth.com/i/c/chr_mid_but_news-o.gif'); chrome_imgPreload('gifChr_mid_but_privacy_mo_9','http://img.intelihealth.com/i/C/Chr_mid_but_privacy-o.gif'); Advertisement Friedreich's Ataxia What Is It? Symptoms Diagnosis Expected Duration ... Additional Info What Is It? Friedreich's ataxia is an inherited (genetic) disorder that causes certain nerve cells to deteriorate over time. In many cases, this disorder also affects the heart, certain bones and cells in the pancreas that produce insulin. The illness typically begins with difficulty walking. People with Friedreich's ataxia develop clumsy, shaky movements of the legs (called gait ataxia) during childhood or early adolescence. (In rare cases, symptoms appear in infants and in middle-aged adults.) As the disease gets worse, people may develop bony deformities of the spine and feet, loss of sensation in the limbs, speech problems, abnormal eye movements, heart disease and diabetes.

44. Friedreich's Ataxia friedreich S ataxia (FRDA) is a rare inherited disease characterized by the progressive loss of voluntary muscular coordination (ataxia) and heart enlargement. http://www.ncbi.nlm.nih.gov/disease/Frda.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View FRDA on chromosome 9 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information National Ataxia Foundation supporting research into Hereditary Ataxia GeneClinics a medical genetics knowledge base for disease FRIEDREICH'S ATAXIA (FRDA) is a rare inherited disease characterized by the progressive loss of voluntary muscular coordination (ataxia) and heart enlargement. It is named after the German doctor, Nikolaus Friedreich, who first described the disease in 1863. FRDA is generally diagnosed in childhood and affects both males and females. FRDA is an autosomal recessive disease caused by a mutation of a gene called frataxin, which is located on chromosome 9. This mutation means that there are many extra copies of a DNA segment, the trinucleotide GAA. A normal individual has 8 to 30 copies of this trinucleotide, while FRDA patients have as many as 1000. The larger the number of GAA copies, the earlier the onset of the disease and the quicker the decline of the patient. Although we know that frataxin is found in the mitochondria of humans, we do not yet know its function. However, there is a very similar protein in yeast, YFH1, which we know more about. YFH1 is involved in controlling iron levels and respiratory function. Since frataxin and YFH1 are so similar, studying YFH1 may help us understand the role of frataxin in FRDA.

45. Friedreich's Ataxia Genes and Disease PDF Document The Nervous System friedreich s ataxia friedreich s ataxia (FRDA) is a rare inherited disease characterized http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

46. Friedreich's Ataxia friedreich s ataxia. Definition. friedreich s ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. http://www.healthatoz.com/healthatoz/Atoz/ency/friedreichs_ataxia.html

Encyclopedia Index F Home Encyclopedia Encyclopedia Index F Friedreich's ataxia Definition Friedreich's ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. Description Ataxia is a condition marked by impaired coordination. Friedreich's ataxia is the most common inherited ataxia, affecting between 3,000-5,000 people in the United States. FA is an autosomal recessive disease, which means that two defective gene copies must be inherited to develop symptoms, one from each parent. A person with only one defective gene copy will not show signs of FA, but may pass along the gene to offspring. Couples with one child affected by FA have a 25% chance in each pregnancy of conceiving another affected child. Causes and symptoms Causes The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is thought to be involved in regulating the transport of iron. In FA, the frataxin gene on chromosome 9 is expanded with nonsense information known as a "triple repeat." This extra DNA interferes with normal production of frataxin, thereby impairing iron transport. Normally, there are 10-21 repeats of the frataxin gene. In FA, this sequence may be repeated between 200-900 times. The types of symptoms and severity of FA seems to be associated with the number of repetitions. Patients with more copies have more severe symptomatology. Researchers are still wrestling with how frataxin and the repeats on chromosome 9 are involved in causing FA. One theory suggests that FA develops in part because defects in iron transport prevent efficient use of cellular energy supplies.

47. FRIEDREICH'S ATAXIA: Contact A Family - For Families With Disabled Children: Inf printer friendly, friedreich S ataxia, friedreich s ataxia Recessive SpinoCerebellar Degeneration. friedreich s ataxia is a genetic http://www.cafamily.org.uk/Direct/f36.html

printer friendly FRIEDREICH'S ATAXIA home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Friedreich's Ataxia: Recessive Spino-Cerebellar Degeneration Friedreich's Ataxia is a genetic disorder characterised by a progressive degeneration of the spino-cerebellar system due to an abnormality of a gene on chromosome 9 (called Frataxin). The first sign of the disorder is unsteadiness of gait (ataxia). The onset of the condition is variable but usually occurs between the ages of four and sixteen (but occasionally between 18 months and thirty years). Although most cases present under the age of 25 very rarely it may produce with an ataxia of much later onset. An onset into the 6th and 7th decades have been found. Therefore it is worth considering even in older patients if some of the other clinical hallmarks are present. The genetic abnormality in the majority (95 per cent plus) is an expansion in the genetic code in the Friedreich ataxia gene. This expansion can be readily detected using a variety of molecular methods. However a small percentage (less than 5 per cent) may just have one expansion in one copy of their gene and the other copy may have a much more subtle abnormality called a point mutation. These latter abnormalities are more difficult to detect and need to be specially requested from the laboratory. The onset of the condition is insidious and affects co-ordination of the muscles used in speech, the arms and legs.

48. HealthCentral - General Encyclopedia - Friedreich's Ataxia friedreich s ataxia. Causes, incidence, and risk factors friedreich s ataxia is an autosomal recessive inherited polyneuropathy (damage to multiple nerves). http://www.healthcentral.com/mhc/top/001411.cfm

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49. HealthCentral.com friedreich s ataxia. Definition. friedreich s ataxia is caused by an abnormality in one of the genes, called X25, located in the ninth chromosome pair. http://www.healthcentral.com/library/librarycontent.cfm?id=13

50. LookSmart - Directory - Friedreich's Ataxia Metabolic friedreich s ataxia. friedreich s ataxia Contains guides and factsheets to the ailment known as friedreich s ataxia. http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us330917/us27

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home IN the directory this category YOU ARE HERE Home Personal Health Friedreich's Ataxia - Contains guides and factsheets to the ailment known as Friedreich's Ataxia. Directory Listings About allRefer Health - Friedreich Ataxia Information Chronicles the treatment, complications, causes, support groups, signs, prevention, prognosis, risks, symptoms, and tests of this spinocerebellar degeneration. CajunHeart's Home Presents the personal story of Kim Andras Bourg, who was born with a progressive hereditary nerve disease called Friedreich's Ataxia, also referred to as FRDA. Friedreich's Ataxia Parents Group Forum for parents to share information, questions and support. Includes a FAQ, new medical findings, inspirations and photos. Gale Encyclopedia of Medicine - Friedreich's Ataxia Focuses on this inherited, progressive nervous system disorder that causes loss of balance and coordination. MGH Neurology - Friedreich's Ataxia Document from the National Ataxia Foundation provides an overview of the disease's history, symptoms, and genetic characteristics. Muscular Dystrophy Association - Facts About Friedreich's Ataxia Factsheet on this inherited disorder of the nervous system provides definitions, symptoms, and causes. With resources for additional information.

51. Friedreich's Ataxia friedreich s ataxia. Definition friedreich s ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. http://www.chclibrary.org/micromed/00048760.html

Main Search Index Definition Description Causes ... Resources Friedreich's ataxia Definition Friedreich's ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. Description pregnancy of conceiving another affected child. Causes The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is involved in regulating the transport of iron. In FA, the frataxin gene is expanded with nonsense information known as a "triple repeat." This extra DNA interferes with normal production of frataxin, thereby impairing iron transport. FA is thought to develop at least in part because defects in iron transport prevent efficient use of cellular energy supplies. The nerve cells most affected by FA are those in the spinal cord involved in relaying information between muscles and the brain. Tight control of movement requires complex feedback between the muscles promoting a movement, those restraining it, and the brain. Without this control, movements become uncoordinated, jerky, and inappropriate to the desired action. Symptoms Symptoms of FA usually first appear between the ages of 8 and 15, although onset as early as 18 months or as late as age 25 is possible. The first symptom is usually gait incoordination. A child with FA may graze doorways when passing through, for instance, or trip over low obstacles. Unsteadiness when standing still and deterioration of position sense is common. Foot deformities and walking up off the heels often results from uneven muscle weakness in the legs.

52. Friedreich-ataxia (FA) friedreichataxia (FA) Informatie van VSN over Ataxie van friedreich; friedreich s ataxia Parents Group Informatie en lotgenotencontact, engelstalig http://www.erfocentrum.nl/zena/fried.php

53. Friedreich friedreich s ataxia. friedreich s ataxia is a slowly progressive disorder of the nervous system and muscles. The disorder, named http://www.psychology.psych.ndsu.nodak.edu/mccourt/website/htdocs/HomePage/Psy48

54. Friedreich's Ataxia friedreich s ataxia, Causes. friedreich s ataxia is caused by an abnormality in one of the genes, called X25, located in the ninth chromosome pair. http://ww3.komotv.com/global/story.asp?s=1230490

55. Idebenone Alzheimer's & Friedreich's Ataxia Research Website Idebenone Alzheimer s research, Idebenone friedreich s ataxia research, idebenone stroke rearch. Alzheimer s disease www.AlzheimersTreatments http://www.idebenone.info/

Alzheimer's disease www. Alzheimers Treatments .com ... Idebenone versus Tacrine in Patients with Alzheimer's disease Idebenone efficacy of idebenone in the treatment of Alzheimer's disease Idebenone Nerve Growth Factor synthesis stimulators in Alzheimer's disease Idebenone in the treatment of dementia of the Alzheimer type Idebenone cognitive enhancement therapy for Alzheimer's disease Idebenone protection from beta amyloid-induced oxidative stress Idebenone protection from beta amyloid-induced memory deficits and neurotoxicity Idebenone a study of 2 doses of idebenone in the treatment of Alzheimer's disease Idebenone a two year study of idebenone treatment for Alzheimer's disease Idebenone stimulates NGF synthesis in the treatment of Alzheimer's disease Idebenone animal model study of Nerve Growth Factor and Alzheimer's disease Leber's hereditary optic neuropathy (LHON) Idebenone does it shorten the time to visual recovery in Leber's hereditary optic neuropathy?

56. Idebenone And Cardiac Hypertrophy In Friedreich's Ataxia Idebenone and reduced cardiac hypertrophy in friedreich s ataxia. BACKGROUND friedreich s ataxia encodes a protein of unknown function, frataxin. http://www.idebenone.info/Idebenone/idebenone-research-65.htm

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rotig A, Rustin P Service de Cardiologie Pediatrique, Hopital Necker-Enfants Malades, 149 rue de Sevres, Paris, France. Heart 2002 Apr;87(4):346-9 Abstract BACKGROUND: Friedreich's ataxia encodes a protein of unknown function, frataxin. The loss of frataxin is caused by a large GAA trinucleotide expansion in the first intron of the gene, resulting in deficiency of a Krebs cycle enzyme, aconitase, and of three mitochondrial respiratory chain complexes (I-III). This causes oxidative stress. Idebenone, a short chain quinone acting as an antioxidant, has been shown to protect heart muscle against oxidative stress in some patients. OBJECTIVE: To assess the efficiency of idebenone on cardiac hypertrophy in Friedreich's ataxia. DESIGN: Prospective, open trial. SETTING: Tertiary care centre. METHODS: Idebenone (5 mg/kg/day) was given orally to 38 patients with Friedreich's ataxia aged 4-22 years (20 males, 18 females). Cardiac ultrasound indices were recorded before and after idebenone treatment. CONCLUSIONS: Idebenone is effective at controlling cardiac hypertrophy in Friedreich's ataxia. As the drug has no serious side effects, there is a good case for giving it continuously in a dose of 5-10 mg/kg/day in patients with Friedreich's ataxia at the onset of hypertrophic cardiomyopathy.

57. FRIEDREICH'S ATAXIA friedreich`s ataxia is a slowly progressive disorder of the nervous system and muscles. friedreich S ataxia. What is friedreich s ataxia? http://www.mydr.com.au/default.asp?article=2412

58. Pipet's Parlour: Friedreich's Ataxia friedreich s ataxia links Muscular Dystrophy Association of Australiafriedreich s ataxia Describes many features of the disease. http://www.geocities.com/CapeCanaveral/Lab/6801/frataxin.html

pipet's parlour friedreich's ataxia site navigation research in the news learning links the human genome genetics primer my research Bipolar disorder    Friedreich's ataxia NIH Mock Proposal Specific Aims Background and Significance Research Design and Methods References ... home This page is dedicated to my cousin, Jennifer Jackson. My Research Proposal Read my mock research proposal, Deciphering the Role of Frataxin . It was written to partially fulfill the first qualifying exam of my PhD program. In it I propose experiments that could help identify a function for frataxin, the protein known to cause the devastating effects of the disease, give background info , and discuss specific experimental methods Friedreich's ataxia links Muscular Dystrophy Association of AustraliaFriedreich's Ataxia Describes many features of the disease. Correction note: lab tests to detect carriers are available as the exact genetic cause of the disease is now known. International Network of Ataxia Friends Find out more about the disease, the latest research announcements, and support information. Note: National Ataxia Foundation links have been buggy lately!

59. Friedreich's Ataxia The following is a brief look at friedreich s ataxia (FA). I will explain what FA is and its typical symptoms. What is friedreich s ataxia? http://www.geocities.com/andysannex/fa.html

Home Friedreich's Ataxia Andy's Stuff Links ... Contact The following is a brief look at Friedreich's Ataxia (FA). I will explain what FA is and its typical symptoms. It is important to note that this disease affects everyone differently and I feel it is meaningful to understand the different experiences of everyone afflicted with FA. What is Friedreich's Ataxia? What Causes FA? What are the symtoms of FA? FA Research ... My Story What is Friedreich's Ataxia? Friedreich's Ataxia is a rare, genetic, progressive, neurological disorder first discovered in the early 1860's by Nicholaus Friedreich. This disease affects the cerebellum and the nervous system. FA affects about one in 50,000 people, making it the most common in a group of related disorders called hereditary ataxias. In 1996 the FAgene was located on chromosome 9 by researchers in Houston, Texas. FA is not contagious. It’s a hereditary disease, caused by a defective gene that can be passed down through a family from one generation to the next. Usually the first symptoms are clumsiness or lack of coordination of the arms and/or legs, muscle weakness, inability to run, difficulty walking caused by ataxia which means - a loss of balance and coordination. Symptoms may also include, heart conditions, diabetes, scoliosis, some hearing and vision loss. Its effects on the heart range from mild, nonsymptomatic abnormalities to life-threatening problems in the heart’s musculature. Symptoms usually begin in childhood or early adolescence but sometimes they may appear later in adult-hood. It doesn’t affect parts of the brain involved in thinking. As time goes on, this disease and its symptoms will progress until individuals MAY need a wheelchair for mobility.

60. NINDS Friedreich's Ataxia Information Page More about friedreich s ataxia, Studies with patients, Research literature, Press releases, NINDS friedreich s ataxia Information Page Reviewed 0801-2000 http://www.medhelp.org/NIHlib/GF-283.html

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 Friedreich's Ataxia Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Friedreich's Ataxia Information Page Reviewed 08-01-2000 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Friedreich's Ataxia? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications What is Friedreich's Ataxia? Is there any treatment? There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. What is the prognosis?

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