1. GeneReviews: Friedreich Ataxia An in depth look at this disorder. Includes a summary, diagnosing, molecular genetic testing, clinical description and management. http://www.geneclinics.org/profiles/friedreich/

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2. Friedreich's Ataxia Fact Sheet National Institute Of Neurological A comprehensive resources guide and fact sheet about Friedreich's Ataxia, compiled by NINDS, the National Institute of Neurological Disorders and http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Friedreich's Ataxia Information Page National Institute Of You are here Home Disorders Friedreich's Ataxia. NINDS Friedreich's Ataxia Information Page Condensed from Friedreich's Ataxia Fact Sheet http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. FARA - Friedreich's Ataxia Research Alliance Home Page Welcome to the Friedreich's Ataxia Research Alliance (FARA) Web site. The Friedreich's Ataxia Research Alliance is a national, public, 501(c)(3), non http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Facts About Friedreich's Ataxia MDA Publications Facts About Friedreich's Ataxia (FA) (FRDA) Muscular Dystrophy Association. Click here for the Spanish version of this publication. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Muscular Dystrophy Association The Muscular Dystrophy Association is a voluntary health agency a dedicated partnership between scientists and concerned citizens aimed at http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Friedreich Ataxia Table 1. Molecular Genetic Testing Used in friedreich ataxia (FRDA) Test Method. Mutations Detected. Prevalence. Test Availability http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. FRIEDREICHS ATAXIA Friedreich's Ataxia is a slowly progressive disorder of the nervous system and muscles. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. EMedicine - Friedreich Ataxia : Article By Eric Ciliberti, MD friedreich ataxia friedreich ataxia (FA, FRDA, friedreich ataxia 1, OMIM *229300)is an autosomal recessive ataxia resulting from a mutation of a gene http://www.emedicine.com/neuro/topic139.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Friedreich Ataxia Last Updated: March 8, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Friedreich's ataxia AUTHOR INFORMATION Section 1 of 8 Author Information Introduction Clinical Differentials ... Bibliography Author: Eric Ciliberti, MD , Staff Physician, Department of Neurology, Cleveland Clinic Florida Coauthor(s): Nestor Galvez-Jimenez, MD , Program Director of Movement Disorders, Director of Neurology Residency Training Program, Department of Neurology, Division of Medicine, Cleveland Clinic Florida Eric Ciliberti, MD, is a member of the following medical societies: American Academy of Ophthalmology American Society of Cataract and Refractive Surgery Contact Lens Association of Ophthalmologists , and Southern Medical Association Editor(s): Dianna Quan, MD

10. National Ataxia Foundation Information about and support for people with ataxia. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. EMedicine - Neuropathy Of Friedreich Ataxia : Article By N K Nikhar, MD Neuropathy of friedreich ataxia Named after Friedreich from Heidelberg, whoreported cases of nonsyphilitic ataxia in the 1860s, friedreich ataxia (FA) is http://www.emedicine.com/neuro/topic265.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Neuromuscular Diseases Neuropathy of Friedreich Ataxia Last Updated: December 16, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: Friedreich's ataxia AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: N K Nikhar, MD , Assistant Professor, Department of Neurology, George Washington University School of Medicine N K Nikhar, MD, is a member of the following medical societies: American Academy of Neurology Editor(s): Paul E Barkhaus, MD , Director of Neuromuscular Diseases, Milwaukee Vets Admin Medical Center, Professor of Neurology, Department of Neurology, Medical College of Wisconsin; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, eMedicine; Glenn Lopate, MD , Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Chief of Neurology, St Louis ConnectCare; Matthew J Baker, MD

12. Welcome To INTERNAF Go FAR Friedreich's Ataxia Research Petition. Raising money internationally to find a cure for friedreich ataxia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Prognosis Negative In A Disintegrating World You don't have to know much about Friedreich's ataxia, a degenerative neurological condition that impairs bodily coordination, to respond to the http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. OMIM - FRIEDREICH ATAXIA 1; FRDA http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229300

15. ► Friedreich Ataxia A medical encycopedia article on the topic friedreich ataxia. http://www.umm.edu/ency/article/001411.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Joslin Diabetes Center Maryland Heart Center Home Medical Reference ... Encyclopedia (English) Toggle English Spanish Friedreich ataxia Overview Symptoms Treatment Prevention Definition: Friedreich ataxia is an inherited form of progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves. Alternative Names: Spinocerebellar degeneration Causes, incidence, and risk factors: Friedreich ataxia is an autosomal recessive inherited polyneuropathy (damage to multiple nerves). The symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination, muscle movement, and some sensory functions. Symptoms generally begin in childhood before puberty. Early symptoms include an unsteady gait ataxia changes in speech dysarthria ), loss of reflexes, and jerky eye movements ( nystagmus Abnormal muscle control and tone lead to spinal changes and scoliosis or kyphoscoliosis may develop. Individuals with Friedreich's ataxia may also have

16. ► Friedreich Ataxia A medical encycopedia article on the topic friedreich ataxia. http://www.umm.edu/ency/article/001411trt.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Joslin Diabetes Center Maryland Heart Center Home Medical Reference ... Encyclopedia (English) Toggle English Spanish Friedreich ataxia Overview Symptoms Treatment Prevention Alternative Names: Spinocerebellar degeneration Treatment: There is no known cure for Friedreich's ataxia. Treatment is based on controlling symptoms and maintaining general health. As the disease may be associated with free radical damage to cells antioxidants such as Vitamin E and coenzyme Q10 are frequently prescribed. There is no systematic scientific evidence of the efficacy of these supplements. Research is ongoing on the use of a coenzyme Q10 derivative (idebonone) in Friedreich ataxia. In preliminary trials, it slowed the development of heart failure in a small number of patients. Physical activity is encouraged, and physical therapy may be beneficial. Safety must be considered when there is loss of balance and loss of sensation . Safety measures may include use of railings, walkers, or other appliances. The prevention of injury to a body part with decreased feeling may include: testing bath water to prevent

17. Friedreich Ataxia - Genetics Home Reference Where can I find additional information about friedreich ataxia? Friedreichataxia is a genetic condition that damages nerve tissue, causing a loss of http://ghr.nlm.nih.gov/condition=friedreichataxia

Home What's New Browse Handbook ... Search Friedreich ataxia Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Friedreich ataxia On this page: What is Friedreich ataxia? How common is Friedreich ataxia? ... help with understanding Friedreich ataxia? What is Friedreich ataxia? Friedreich ataxia is a genetic condition that damages nerve tissue, causing a loss of muscle coordination (ataxia) that worsens over time. Other characteristics of this condition include the gradual loss of strength and sensation in arms and legs, muscle stiffness (spasticity) in the limbs, and impaired speech. Friedreich ataxia may also affect heart function. Typically, signs and symptoms of Friedreich ataxia first appear in childhood or the early teens. Poor balance when walking and slurred speech are often the initial symptoms. About 25 percent of cases, however, occur after age 25. These cases are classified as late-onset Friedreich ataxia (LOFA), with onset between 26 and 39 years, or very late-onset Friedreich ataxia (VLOFA), which begins at age 40 or older. How common is Friedreich ataxia?

18. Disease - Friedreich Ataxia (FRDA) The gene mutation responsible for Friedreich s ataxia is characterized by anexcessive Friedreich s ataxia is inherited as an autosomal recessive trait. http://disability.ucdavis.edu/resources/diseases/list/disease.asp?id=28

19. Ataxia: Recessive friedreich ataxia Expansion in number of GAA repeats in intron at end of Nosology Also called Spinocerebellar ataxia, recessive, nonFriedreich type http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

Front Search Index Links ... Ataxia-Oculomotor Apraxia 1 (AOA1): Aprataxin; 9p13 Ataxia-Oculomotor Apraxia 2 (AOA2): Senataxin; 9q34 Ataxia telangectasia : ATM; 11q22 Ataxia telangectasia-like (ATLD): MRE11; 11q21 Ataxia with neuropathy Ataxia with upgaze palsy Baltic Myoclonus (Unverricht-Lundborg) : Cystatin B; 21q22 Cardiomyopathy + Ataxia Cayman ataxia : ATCAY; 19p13 Cerebelloparenchymal disorders (CPD): II III IV V ... Charlevoix-Saguenay - Spastic Ataxia : Sacsin; 13q12 Childhood onset Cockayne Syndrome Coenzyme Q10 deficiency Cytochrome c Oxidase I : Mitochondrial Early onset with retained reflexes (EOCA) Friedreich ataxia : Frataxin (FRDA); 9q13 Friedreich ataxia 2 (FRDA 2): 9p23 Hypogonadism Infantile Onset Spinocerebellar Ataxia : Twinkle; 10q24 Leukoencephalopathies with vanishing white matter Macular dystrophy MIRAS Portneuf spastic ataxia ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Slow eye movements Vitamin E deficiency Xeroderma pigmentosum Metabolic ataxias ... Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis Hartnup ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22

20. EMJA: Friedreich Ataxia: From Genes To Therapies? (Medical Journal of Australia) friedreich ataxia from genes to therapies? http://www.mja.com.au/public/issues/182_09_020505/del10843_fm.html

Home Issues Email alerts Classifieds ... Search PubMed for related articles Editorials Friedreich ataxia: from genes to therapies? Martin B Delatycki Panos A Ioannou and Andrew J Churchyard MJA Most cases are caused by a single mutation, paving the way for therapeutic advances for this fatal disease F With an average age of onset of 10 years, those affected by this condition become wheelchair-bound on average 10 years after onset. The symptom that heralds onset in the vast majority of cases is increasing incoordination. Onset after 30 years of age is rare. Death ensues, on average, 36 years after disease onset and is largely due to hypertrophic cardiomyopathy. Other sources of morbidity in FRDA include an increased incidence of diabetes mellitus, dysarthria, swallowing difficulties, scoliosis, optic atrophy, hearing loss and foot deformity. FRDA is caused by mutations in the FRDA gene which encodes the protein frataxin. The pathogenic mutation is an expanded GAA triplet repeat in intron one of the FRDA gene in 98% of mutant alleles. The other 2% are point mutations. The fact that one mutation accounts for the vast majority of FRDA means that there is a relatively simple diagnostic test available for this disease.

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