61. Friedreich's Ataxia (www.whonamedit.com) friedreich s ataxia An inheritable, chronic and progressive degenerative diseasewith sclerosis of the dorsal and lateral columns of the spinal cord. http://www.whonamedit.com/synd.cfm/1406.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Friedreich's ataxia Also known as: Friedreich’s disease Synonyms: Spinocerebellar heredotaxia. Associated persons: Nikolaus Friedreich Description: An inheritable, chronic and progressive degenerative disease with sclerosis of the dorsal and lateral columns of the spinal cord. Accompanied by ataxia, speech impairment, lateral curvature of the spinal column, and peculiar swaying and irregular movements, with paralysis of the muscles, especially of the lower extremities. A variety of skeletal deformities (Friedreich foot) may be present and cardiac involvement (30-50%) represents a potentially lethal complication. Up to 90% have ECG. anomalies relating to associated cardiomyopathy. Onset occurs in childhood or early adolescence, rarely after the age of 20. Inheritance is usually autosomal recessive or dominant, but sporadic cases have also been observed. Bibliography: N. Friedreich:

62. FRIEDREICH'S ATAXIA: Contact A Family - For Families With Disabled Children: Inf Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/f36.html

printer friendly FRIEDREICH'S ATAXIA home how we can help medical information index of conditions ... how you can help 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.

63. AllRefer Health - Friedreich's Ataxia (Spinocerebellar Degeneration) friedreich s ataxia (Spinocerebellar Degeneration) information center coverscauses, prevention, symptoms, diagnosis, treatment, incidence, risk factors, http://health.allrefer.com/health/friedreich-ataxia-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Friedreich's Ataxia Friedreich's Ataxia Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate 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. Central Nervous System 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.

64. AllRefer Health - Friedreich's Ataxia Treatment (Spinocerebellar Degeneration) friedreich s ataxia (Spinocerebellar Degeneration) information center covers Treatment. http://health.allrefer.com/health/friedreich-ataxia-treatment.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Friedreich's Ataxia : Treatment of Friedreich's Ataxia Friedreich's Ataxia Definition Prevention Treatment Expectations or Prognosis Complications Support Groups Calling Your Health Care Provider ... Go To Main Page Alternate Names : Spinocerebellar Degeneration Friedreich's Ataxia Treatment There is no known cure for Friedreich's ataxia. The goal of treatment is to control symptoms and maintain general health. Physical activity is encouraged, and physical therapy may be beneficial. 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. Safety must be considered when there is loss of balance or sensation. Safety railings, walkers, or other appliances may help. If the person loses feeling in a body part, injuries can be prevented by testing bath water to prevent

65. Friedreich's Ataxia: Definition And Much More From Answers.com hereditary spinal ataxia n. Sclerosis of the posterior and lateral columns ofthe spinal cord, occurring in children and characterized by ataxia in. http://www.answers.com/topic/hereditary-spinal-ataxia

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Medical Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Friedreich's ataxia Medical hereditary spinal ataxia n. Sclerosis of the posterior and lateral columns of the spinal cord, occurring in children and characterized by ataxia in the lower extremities that spreads to the upper extremities and is followed by paralysis and contractures. Also called Friedreich's ataxia Wikipedia Friedreich's ataxia Friedreich's ataxia is rare, although it is one of the most common forms of autosomal recessive ataxia. A recessive disorder caused by a mutation in Gene X25 that codes for frataxin , located on chromosome 9. It is named after Nikolaus Friedreich , a German doctor who described the disease in Delatycki et al. (2000) provided an overview of the clinical features, pathology , molecular genetics, and possible therapeutic options in Friedreich ataxia. Friedreich's ataxia and muscular dystrophy , though often compared, are completely different diseases. Muscular dystrophy is the result of muscle tissue degeneration whereas Friedreich's ataxia is the result of nervous tissue degeneration. Both are researched by the Muscular Dystrophy Association Symptoms Symptoms begin sometime between the age of 5 to 15 years. The symptoms can include any combination, but not necessarily all of:

66. BBC - Health - Conditions - Friedreich's Ataxia ataxia can affect balance, limb or eye movements and speech. http://www.bbc.co.uk/health/conditions/friedreich1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Ataxia (including Friedreich's ataxia) Dr Trisha Macnair Ataxia is the loss of bodily movements. Early problems include unsteadiness and clumsiness, but vision, hearing and speech can be affected too. In this article The causes The symptoms Who's affected The causes Ataxia can be caused by many things, including multiple sclerosis, brain tumours and alcoholism. It can also be caused by a genetic abnormality that leads to brain damage, particularly in an area known as the cerebellum. There are several types of inherited ataxia There are several types of inherited ataxia. One important division is between those that begin in childhood (early-onset ataxias) and those that start in adulthood (late-onset ataxias). Friedreich's ataxia is the most common type of early-onset ataxia in Europe. This is caused by a fault in the gene that codes for a protein known as frataxin. Another common type is ataxia telangiectasia. The symptoms Symptoms vary depending on the type of ataxia Symptoms vary depending on the type of ataxia but include early problems with unsteadiness and clumsiness, which (in the early onset types) usually start between ages four and 16. This is followed by a progressive loss of the ability to walk. Vision, hearing and speech may also be affected.

67. Friedreich's Ataxia Medical Information friedreich s ataxia Information from Drugs.com. friedreich s ataxia is anautosomal recessive genetic disorder, meaning the affected individual must http://www.drugs.com/enc/friedreich_s_ataxia.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Friedreich's ataxia Injury Disease Nutrition Poison ... Central nervous system Friedreich's ataxia Definition Friedreich's ataxia (FRDA) is a rare inherited disease. The two main features of this disorder are: progressive loss of voluntary muscular coordination (ataxia) heart enlargement Diagnosis is usually made between ages 8 and 15, and for most by age 25. Alternative Names Spinocerebellar degeneration Causes Friedreich's ataxia is an autosomal recessive genetic disorder, meaning the affected individual must inherit two altered genes - one from the mother and one from the father. A gene called Frataxin FXN ), located on chromosome 9, is involved. Changes in the gene result in many extra copies of a DNA segment called a trinucleotide repeat (GAA). Individuals without Friedreich ataxia have anywhere from 8 to 30 copies of this GAA segment. Individuals with FRDA have as many as 1,000 copies. The more copies of GAA the individual has, the earlier the onset of the disease and the faster it progresses.

68. Friedreich's Ataxia friedreich s ataxia Updated June 7, 2005 friedreich s ataxia Research Alliance.Researched by NOAH Contributing Editor NOAH Team http://www.noah-health.org/en/bns/disorders/other/friedreich.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Brain and Nervous System Change text size: Friedreich's Ataxia Updated: August 12, 2005 Facts About Friedreich's Ataxia Muscular Dystrophy Association (also in Spanish FAQs Friedreich's Ataxia Research Alliance Friedreich's Ataxia National Center for Biotechnology Information Friedreich's Ataxia Fact Sheet (also in Spanish Friedreich's Ataxia Information Page The Heart and Friedreich's Ataxia (FRDA): A Beginner's Primer and Introduction Friedreich's Ataxia Research Alliance What is Friedreich's Ataxia? Friedreich's Ataxia Research Alliance Information Resources Friedreich's Ataxia Research Alliance Researched by NOAH Contributing Editor: NOAH Team NOAH Brain and Nervous System Specific Nervous System Disorders Other Neurological Problems > Friedreich's Ataxia Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

69. Friedreich's Ataxia friedreich s ataxia Research Alliance awards grants to researchers studyingtreatments for friedreich s ataxia and other ataxias. The grants are intended to http://vpr2.admin.arizona.edu/rso/02061810.htm

FRIEDREICH Friedreich's Ataxia Research Alliance awards grants to researchers studying treatments for Friedreich's ataxia and other ataxias. The grants are intended to help investigators collect data before applying to larger funding bodies. Awards for 2002 are expected to be "considerably higher" than in previous years, when they were limited to $20,000. Contact: Ronald Bartek, FARA, 2001 Jefferson Davis Hwy., Suite 209, Arlington, VA 22202. E-mail: fara@frda.org Web: http://www.frda.org/research/grants.shtml#applications Deadline: None. RSO Reference No.:

70. Friedreich S Ataxia friedreich s ataxia (FA) is an inherited, progressive nervous system disordercausing loss of balance and coordination. http://neurology.health-cares.net/Friedreichs-ataxia.php

71. Treatment Of Friedreich S Ataxia There is no known cure for friedreich s ataxia. Treatment is based on controllingsymptoms and maintaining general health. http://neurology.health-cares.net/Friedreichs-ataxia-treatment.php

72. Dr. Koop - Friedreich's Ataxia- Health Encyclopedia And Reference friedreich s ataxia Symptoms, Treatments and Medications. http://drkoop.com/encyclopedia/93/13/Friedreichs_Ataxia.html

Home Miscellaneous Anatomy/Biology Neurology Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Health Encyclopedia - Diseases and Conditions A B C D ... Y Friedreich's Ataxia What is the Definition of Friedreich's Ataxia? Description of Friedreich's Ataxia Causes of Friedreich's Ataxia Symptoms of Friedreich's Ataxia ... What Questions to ask Your Doctor About Friedreich's Ataxia? What is the Definition of Friedreich's Ataxia? Ataxia is defined as the failure of muscle coordination that generally results in an unsteady gait and balance, limb or eye movements, and/or speech. top ^ Description of Friedreich's Ataxia Friedreich's Ataxia is named after a German neurologist, Nikolaus Friedreich, who, in 1863, described this rare, inherited disease to the medical community. Friedreich's Ataxia is also known as familial ataxia, Friedreich's disease, Friedreich's tabes, hereditary ataxia - Friedreich's type, spinal ataxia - hereditofamilial or spinocerebellar ataxia. top ^ Causes of Friedreich's Ataxia Friedreich's Ataxia is caused by an abnormality in one of the genes, called X25, located in the ninth chromosome pair. Genes are sets of instructions that tell the cells, containing chromosomes, how to build the proteins that enable these cells to carry out their various functions. These functions determine a person's physical characteristics, from the color of the hair and eyes to the organization of the nervous system.

73. CMGS-FRIEDREICH’S ATAXIA/17.12.98 friedreich S ataxia. FRDA is the most common hereditary ataxia with an incidenceof 1 in 50000 and IDENTIFICATION OF THE friedreich S ataxia GENE http://www.ich.ucl.ac.uk/cmgs/fried98.htm

FRIEDREICH'S ATAXIA FRDA is the most common hereditary ataxia with an incidence of 1 in 50,000 and deduced carrier frequency of 1 in 120 in European populations (it is rare in Finland, among black Africans and non existent in Japan) ONSET Usually around puberty but with wide variations (more variable between, rather than within families). Initial classification, which discounted patients with onset after 25 years, has since been broadened. Gait instability (65%) or generalized clumsiness (25%) are the usual initial symptoms. Most patients are confined to a wheelchair by their late twenties and there is no treatment to slow progression of the disease. SYMPTOMS NEUROPATHOLOGY Loss of primary sensory neurons of the dorsal root ganglia (DRG) is an early and invariable finding with those fibres originating more caudally being more severely affected. Deterioration of the sensory posterior columns and spinocerebellar tracts and corticospinal motor tracts of the spinal cord is also observed (therefore, the sensory systems providing information to the brain and cerebellum about the position and speed of body segments, particularly the lower limbs, are severely compromised in FRDA). Although most motor neurons are well preserved the corticospinal motor tracts are atropied explaining the pyramidal signs. The cerebellar cortex shows only mild loss of Purkinje cells late in the disease course ( in contrast with other inherited degenerative ataxias). IDENTIFICATION OF THE FRIEDREICH'S ATAXIA GENE

74. CMGS-Friedrich's Ataxia/23.9.97 friedreich s ataxia is the most common inherited ataxia with an incidence of friedreich s ataxia is caused by mutations in the FRDA gene located on http://www.ich.ucl.ac.uk/cmgs/fried.htm

LAE MRCPath Course 1997/98 Friedreich's Ataxia Introduction Friedreich's ataxia is the most common inherited ataxia with an incidence of 1/50,000 in European populations (carrier frequency of 1/120). Friedreich's ataxia is caused by mutations in the FRDA gene located on chromosome 9 which encodes the protein Frataxin. It is the first autosomal recessive disease identified in which a triplet repeat expansion, (GAA) n can be the causative mutation. Symptoms Friedreich's ataxia is characterised by progressive gait ataxia and ataxia of all four limbs, hypertrophic cardiomyopathy and increased incidence of diabetes mellitus / impaired glucose tolerance (30%). Patients also have dysarthria and areflexia with, optic atrophy and sensoneural deafness occasionally seen. Onset of symptoms is typically around puberty, and usually before 25 years of age with most patients wheelchair bound by their late twenties. Myocardial failure is the most common cause of death. The disease primarily affects central and peripheral nervous systems and the heart. The first pathological changes occur in the dorsal root ganglia with the loss of large sensory neurones followed by neurone degeneration in Clarke's and posterior columns and pyramidal and dorsal cerebellar tracts of the spinal cord. Mild degenerative changes also occur in the medulla, cerebellum and pons. Cardiomyopathy and diabetes are thought to reflect independant sites of primary degeneration. In most other ataxias the primary site of degeneration is in the cerebellum.

75. Friedreich's Ataxia friedreich s ataxia is named after a German neurologist, Nikolaus friedreich friedreich s ataxia is also known as familial ataxia, friedreich s disease, http://ww3.komotv.com/global/story.asp?s=1230490

76. Idebenone Alzheimer's & Friedreich's Ataxia Research Website Idebenone Alzheimer s research, Idebenone friedreich s ataxia research, idebenonestroke rearch. 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?

77. Friedreich's Ataxia Alternate Names friedreich’s ataxia is also known as familial ataxia, Causes, incidence and risk factors friedreich’s ataxia is caused by an http://www.spinalcord.ar.gov/Publications/FactSheets/ataxia.html

Online Services Privacy Accessibility Security Friedreich's Ataxia Alternate Names Causes, incidence and risk factors Symptoms : The symptoms usually begin in childhood or youth (age 5 through 25) as a result of the deterioration in areas of the brain controlling muscle coordination, the spinal cord and nerves. Symptoms may include: Diagnosis Treatment : Since FRDA is a degenerative disease of the nervous system there is no specific treatment. However, many of the symptoms associated with FRDA can be treated or controlled. Treatment methods for symptoms are listed below: Diabetes : use of insulin Tremors : use of propranolol Muscle spasms : use of dantrolene sodium Curvature of spine/foot deformities : orthopedic surgery or braces Vision problems : corrective devices such as glasses and contact lens, surgery or medication Hearing problems : hearing aids, surgery or medication Muscle function : the use of physical therapy Cardiomyopathy : diuretic and antiarrhythmic drugs or heart transplant may be located on the following web sites: www.fortnet.org/fapg/

78. Brain Foundation - Friedreich's Ataxia friedreich s ataxia is a genetic disorder that causes progressive damage to the friedreich s ataxia is caused by a genetic defect which affects male and http://www.brainaustralia.org.au/AZ_of_Brain_Disorders/friedreichs_ataxia

Home About Us The Brain Healthy Brain ... Site Map DHTML_MENU_rel_path = '/squizlib/dhtml_menu/images/'; Friedreich’s Ataxia Description Friedreich's ataxia is a genetic disorder that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. Ataxia (loss of co-ordination) results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Friedreich's Ataxia is caused by a genetic defect which affects male and female children alike and is passed down as a recessive trait. This means that the disease will develop in offspring only when both mother and father transmit the recessive Friedreich's Ataxia gene. A child who receives the defective gene from one parent and a normal gene from the other becomes a carrier and never develops the disease. For this reason, there may be carriers of Friedreich's Ataxia in a family that has no known history of the disorder. When both parents are carriers, the chances of a child inheriting Friedreich's Ataxia are one in four. Cases in which a family history of the disease has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). All children of someone with FA are carriers, half the grandchildren will be carriers.

79. Friedreich's Ataxia Synonyms. spinocerebellar ataxia; familial ataxia; hereditary ataxia of friedreich;hereditary spinal ataxia. ICD9-CM 334.0 friedreich s ataxia http://www.5mcc.com/Assets/SUMMARY/TP0353.html

Friedreich's ataxia DESCRIPTION: Autosomal recessive disease beginning in childhood or youth. Characteristics include sclerosis of the dorsal and lateral columns of the spinal cord. symptoms include ataxia, speech impairment, lateral curvature of the spinal column, peculiar swaying and irregular movements, and paralysis of the muscles of the lower extremities. Usual course - chronic; progressive. CAUSES: usually hereditary Synonyms: spinocerebellar ataxia familial ataxia hereditary ataxia of Friedreich hereditary spinal ataxia ICD-9-CM: 334.0 Friedreich's ataxia Author(s): Mark R. Dambro, MD

80. Friedreich’s Ataxia Research & Disability Fund Raising: The Mass-Cal Project friedreich’s ataxia research disability fund raising, The MassCal Project.Includes the mission of one man s epic journey to travel cross-country in a http://www.themasscalproject.com/

Home About Photo Gallery References ... Contact The Mass-Cal Project The Mass-Cal Project is the incredible endeavor of a thirty-two-year-old young man, Brian Donovan. Diagnosed at the age of fifteen with Friedreich’s ataxia, Brian started using a wheelchair when he was twenty-one. His ultimate goal is to raise funds for people with disabilities who need medical products and cannot afford such products, as well as to raise funding for Friedreich’s ataxia research. Brian will be crossing the country from Massachusetts to California in a power wheelchair in this astonishing journey, which will launch at an undetermined date. Would You Like To Help? The Mass-Cal Project is searching for corporate sponsors as well as for donations from private donors to finance this epic journey. If you would like to help support this project, you may make online contributions with our convenient Donate Online form. For questions about how you might help in non monetary ways, please contact us The Mass-Cal Project's 1st Annual North Andover to Salisbury Independent Run On March 19, 2005, Brian premiered The Mass-Cal Project's 1st annual North Andover to Salisbury Independent Run to get the word out about The Mass-Cal Project. Brian drove his power wheelchair in a lone act of determination.

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