1. NINDS Friedreich's Ataxia Information Page An information sheet the National Institute of Neurological Disorders and Stroke .Category Health Conditions and Diseases friedreich ataxia...... More about Friedreich's Ataxia, Studies with patients, Research literature, Pressreleases, NINDS Friedreich's Ataxia Information Page Reviewed 0701-2001 http://www.ninds.nih.gov/health_and_medical/disorders/friedreichs_ataxia.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 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 07-01-2001 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 and Information 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?

2. 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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3. Friedreich Ataxia WHAT IS FRIEDREICH'S ATAXIA The word ataxia means a lack of coordination of voluntary movements which is not a consequence of muscle weakness. http://www.cam.org/~acaf/docs/FA.html

WHAT IS FRIEDREICH'S ATAXIA The word ataxia means a lack of coordination of voluntary movements which is not a consequence of muscle weakness. It is generally related to a cerebellar lesion which may involve the cerebellum itself or the nerve fibers which carry to the cerebellum the information concerning the position of the limbs. This information is transmitted by the spinal cord (spino- cerebellar tract). The onset of symptoms occurs before puberty. The initial manifestations of the disease are ataxia or gait incoordination and progressively walking becomes more and more difficult. Patients must eventually use a wheelchair. Other functions are also affected, although less severely: there is incoordination of the upper limbs, of speech and eye muscles. The brain is not affected, and thus the intellect is preserved. As in all neuro- muscular diseases, the rate of progression is variable from one patient to another, but progression of the disease is inexorable. Besides ataxia which is caused by a spino-cerebellar degeneration, motor and sensitive nerves are also affected. Motor nerve impairment results in a moderate degree of weakness of the lower limbs. Osteo-tendinous reflexes are abolished (automatic movements which are elicited by percussion of the knee, ankle or upper limb tendons.) Sensory nerve impairment results in numbness of the hands, decreased visual and auditory acuity. There is also a progressive cardiomyopathy in Friedreich ataxia (FA)(which leads to the death of the patient) and a tendency to diabetes. Moreover, a majority of these patients have scoliosis (deformity of the spine).

4. OMIM ENTRY 229300 Background friedreich ataxia (FA, FRDA, friedreich ataxia 1, OMIM *229300) is an autosomal recessive ataxia resulting http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?229300

5. Friedreich Ataxia friedreich ataxia. FRDA Table 1. Molecular Genetic Testing Used in FriedreichAtaxia (FRDA). % of Patients, Genetic Mechanism, Test Type, Test Availability. http://www.geneclinics.org/profiles/friedreich/details.html

Friedreich Ataxia [FRDA] Authors: Sanjay I Bidichandani, MBBS, PhD; University of Oklahoma Health Sciences Center Tetsuo Ashizawa, MD; Baylor College of Medicine Initial Posting: 18 December 1998 Last Revision 9 December 2002 Summary Disease characteristics. Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before the age of 25 years typically associated with depressed tendon reflexes, dysarthria, Babinski responses, and loss of position and vibration senses. About 25% of patients have an "atypical" presentation with later onset (after age 25 years), retained tendon reflexes, or unusually slow progression of disease. About two thirds of patients have cardiomyopathy. Diabetes mellitus occurs in 10% of patients. Diagnosis/testing. The vast majority of patients with FRDA have identifiable mutations in the FRDA gene (chromosomal locus FRDA gene. About 4% of patients affected with FRDA are compound heterozygotes for the GAA expansion and an FRDA point mutation. Molecular genetic testing for the GAA triplet-repeat expansion and FRDA point mutations is available on a clinical basis.

6. Friedreich Ataxia Disease friedreich ataxia. OMIM number 229300 http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/891.html

Disease : Friedreich ataxia OMIM number : Body System : Type : Inheritance pattern : AR Incidence/prevalence : P Population surveyed : Norway (Western) Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : D Reference : Skre H. Epidemiology of spinocerebellar degeneration in Western Norway: Hereditary ataxias. In: Sobue I, ed. Spino-cerebellar Degenerations. Tokyo: University of Tokyo Press;1980:103-119. Comments : Also in: Skre H. Friedreich's ataxiain Western Norway. Clin Genetics 1975;7:287-298.

7. MEDLINEplus Medical Encyclopedia: Friedreich Ataxia friedreich ataxia. friedreich ataxia is an autosomal recessive inheritedpolyneuropathy (damage to multiple nerves). The symptoms http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Friedreich 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 ataxia is an inherited form of progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves. Causes, incidence, and risk factors Return to top 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

8. Ataxia: Recessive RECESSIVE ATAXIAS. friedreich ataxia 2. friedreich ataxia. Genetic Features FRDA(Frataxin; X25) (Yeast homolog ) FRDA gene contains 7 exons Exon 6 is noncoding; http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

Front Search Index Links ... Ataxia-Oculomotor Apraxia 1 (AOA1): Aprataxin; 9p13 Ataxia-Oculomotor Apraxia 2 Ataxia telangectasia : ATM; 11q22 Ataxia telangectasia-like (ATLD): MRE11; 11q21 Ataxia with neuropathy Baltic Myoclonus (Unverricht-Lundborg) : Cystatin B; 21q22 Cayman ataxia Cerebelloparenchymal disorders (CPD): II III IV V ... Charlevoix-Saguenay - Spastic Ataxia : Sacsin; 13q12 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 Leukoencephalopathy with vanishing white matter Macular dystrophy ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Vitamin E deficiency a -tocopherol transfer protein; 8q13 Xeroderma pigmentosum Metabolic ataxias Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis g ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22 L-2 Hydroxyglutaric acidemia Maple Syrup Urine Disease : BCKDH; 19q13 Niemann-Pick, Type C

9. HONselect - Friedreich Ataxia English friedreich ataxia, Friedreich Disease - Hereditary Spinal Sclerosis -Sclerosis, Hereditary Spinal - Freidreich's Ataxia - Friedreich Familial Ataxia http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.150.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Friedreich Ataxia - Friedreich Disease - Hereditary Spinal Sclerosis - Sclerosis, Hereditary Spinal - Freidreich's Ataxia - Friedreich Familial Ataxia - Friedreich Hereditary Ataxia Français: ATAXIE FRIEDREICH - FRIEDREICH, ATAXIE Deutsch: Friedreich-Ataxie - Friedreich-Krankheit (Ataxie) - Hereditäre spinale Sklerose - Sklerose, hereditäre, spinale Español: ATAXIA DE FRIEDREICH - ENFERMEDAD DE FRIEDREICH - ESCLEROSIS ESPINAL HEREDITARIA Português: ATAXIA DE FRIEDREICH - DOENCA DE FRIEDREICH - ESCLEROSE ESPINHAL HEREDITARIA HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español Yes Português Yes Home About us Site map ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.150.html Last modified: Thu Jul 25 2002

10. Friedreich Ataxia last update 09/12/2002 Disease Names/Indications, Locus/Gene(s), OMIM(s),Contact. friedreich ataxia, FRDA, 229300, Kim Flintoff. Introduction. http://leedsdna.info/tests/Friedreich Ataxia.htm

11. 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 locus http://www.emedicine.com/neuro/topic139.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search 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, Associate Professor, 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 , Director, Electromyography Laboratory, Assistant Professor, Department of Neurology, University of Colorado Health Sciences Center; Francisco Talavera, PharmD, PhD

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

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search 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, Division of Neuromuscular Diseases, Milwaukee Veterans Administration Medical Center; Professor, Department of Neurology, Medical College of Wisconsin; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine; Glenn Lopate, MD , Assistant Professor of Neurology, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Chief of Neurology, St Louis ConnectCare; Matthew J Baker, MD

13. 1Up Health > Friedreich Ataxia > Causes, Incidence, And Risk Factors Of Friedrei Comprehesive information on friedreich ataxia (Spinocerebellar degeneration). Friedreichataxia Causes, Incidence, and Risk Factors. Alternative names http://www.1uphealth.com/health/friedreich_ataxia_info.html

1Up Health Friedreich ataxia Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Friedreich ataxia Information Friedreich ataxia Causes, Incidence, and Risk Factors Alternative names : Spinocerebellar degeneration Definition : Friedreich ataxia is an inherited form of progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves. 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 hammer toe and high arches (pes cavus).

14. ACAF/CAFA Translate this page Familiales auparavantAssociation Canadienne de l'Ataxie de Friedreich Canadian Associationof Familial Ataxias was Canadian Association of friedreich ataxia http://www.cam.org/~acaf/

Bienvenue/Welcome Association Canadienne des Ataxies Familiales auparavant:Association Canadienne de l' Ataxie de Friedreich Canadian Association of Familial Ataxias was: Canadian Association of Friedreich Ataxia Claude St-Jean acaf@cam.org Bureau des services sociaux: acafssociaux@hotmail.com FORMULAIRE D'INSCRIPTION (RENOUVELLEMENT) du 16 au 31 janvier 2003 30th Fund Raising Campaign from january 16 to 31 2003 Feuillet de don Get the application "Acrobat reader" needed to print it by clicking here Donation slip COMPTE RENDU DE L'AGA Programme de bourses d'excellence Scholarship program 25 septembre (JISA) Affiche ... DNA, genes, mithochondria, Idebenone: what's that all about? DANS LE TRAITEMENT DE L'ATAXIE DE FRIEDREICH Claude St-Jean et le Dr. Massimo Pandolfo Le combat de Claude St-Jean Revue l'Oratoire (2001) Salon de chat Album-photo Autres liens / Other links webmaster: michel.beaudet@videotron.ca

15. Friedreich Ataxia friedreich ataxia. Definition friedreich ataxia is an inherited form of progressivedysfunction of the cerebellum, spinal cord, and peripheral nerves. http://www.iowaclinic.com/adam/ency/article/001411.shtml

Disease Injury Nutrition Poison ... Prevention Friedreich ataxia 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 hammer toe and high arches (pes cavus). Heart disease usually develops and may progress into heart failure . Death may result from heart failure or dysrhythmias that will not respond to treatment.

16. Friedreich Ataxia friedreich ataxia. Alternative Names There is no known cure for Friedreich's ataxia.Treatment is based on controlling symptoms and maintaining general health. http://www.iowaclinic.com/adam/ency/article/001411trt.shtml

Disease Injury Nutrition Poison ... Prevention Friedreich ataxia 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 burns , visual inspection of the body part to check for injuries, use of protective shoes, helmets, or other measures. Support Groups: The Friedreich Ataxia Research Alliance (FARA) is an excellent source of information on this disease.

17. Genetics Research: Friedreich Ataxia friedreich ataxia. Principal Investigators Pragna Patel, Ph.D. Arch. Neurol. in press.Bidichandani, SI, Patel, PI, and Ashizawa, T. (1998) friedreich ataxia. http://www.bcm.tmc.edu/neurol/research/genes/genes5.html

Friedreich Ataxia Principal Investigators: Pragna Patel, Ph.D. Autosomal recessive disorder Frequency: 1-2 in 50,000 Symptoms include: progressive gait and limb ataxia, absent tendon reflexes in the legs, loss of position sense, hypertrophic cardiomyopathy Gene located on long arm of chromosome 9 Our recent discoveries include: A GAA triplet repeat expansion in intron 1 of a gene (X25) encoding the protein, frataxin, has been found as the disease-causing mutation in the majority of FRDA patients A minority of patients have a point mutation in X25 on one chromosome The GAA triplet repeat expansion interferes with X25 gene transcription The GAA triplet repeat expansion is unstable and can undergo dramatic length variation in somatic cells DNA-based diagnosis is possible by PCR or Southern analysis Selected References: Bidichandani, S.I., Purandare, S.M., Taylor E.E., Gumin,G., Machkhas,H., Harati,Y., Gibbs, R.A., Ashizawa,T., Patel, P.I. (1999) Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts, and enhanced mutagenesis in the flanking sequence. Hum. Mol. Genet. in press. Bidichandani, S.I., Garcia, C.A., Patel, P.I., Dimachkie, M.M. (1999) Very late-onset Friedreich ataxia (VLOFA) despite large GAA triplet repeat expansions. Arch. Neurol. in press.

18. FRIEDREICH ATAXIA friedreich ataxia. DEFINITION INTERNET LINKS National Ataxia FoundationMuscular Dystrophy Association (Australia) Friedreich's Ataxia. http://www.icondata.com/health/pedbase/files/FRIEDREI.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 7/29/97 FRIEDREICH ATAXIA DEFINITION: A multisystem disorder characterized by progressive ataxia and neurologic, cardiac, musculoskeletal, and endocrine manifestations. EPIDEMIOLOGY: incidence: 1/100,000 live births age of onset: usually prior to 10 years of age (but as late as 16 years) risk factors: familial - autosomal recessive chrom.#: 9q13-q21.1 gene: frataxin clinical features similar in members of same family heterozygotes are phenotypically normal PATHOGENESIS: CLINICAL FEATURES: 1. Neurological Manifestations 1. Ataxia initial presentation in 95% of cases 2. Cerebellar Dysfunction dysarthria (explosive) dysdiadokokinesia finger-nose ataxia head titubation ocular dysmetria positive Romberg test 3. Others 1. Reflexes absent deep tendon reflexes extensor plantar reflex 2. Sensation loss of vibration and position sense impaired light touch and pain sensation 3. Others normal intelligence neurosensory hearing loss muscle weakness in hands and feet 2. Cardiac Manifestations 1. Hypertrophic Cardiomyopathy (in 90% of patients)

19. MedWebPlus Web Site ID 26103 adam.com Encyclopedia Disease Reference friedreich ataxia (Spinocerebellar degeneration)(Iowa Clinic). http//www.iowaclinic.com/adam/ency/article/001411.shtml http://www.medwebplus.com/obj/26103

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. adam.com Encyclopedia Disease Reference Friedreich ataxia (Spinocerebellar degeneration) (Iowa Clinic) http://www.iowaclinic.com/adam/ency/article/001411.shtml Uptime grade: A Usage grade: Popularity: N/A Location: North America United States Iowa Des Moines Subjects: All Diseases Central Nervous System Diseases Diseases and Conditions Neurodegenerative Diseases ... Privacy statement Powered by y-Base

20. Nature Publishing Group 186 Mouse models for friedreich ataxia exhibit cardiomyopathy, sensory nerve defectand FeS enzyme deficiency followed by intramitochondrial iron deposits http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v27/n2/full/ng0201_1

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