21. Machado-Joseph Disease Subject machadojoseph disease Topic Area Ataxia Forum The Neurology and NeurosurgeryForum Question Posted By Eleonora on Wednesday, July 26, 2000 I'm 42 http://www.medhelp.org/forums/neuro/messages/30707a.html

Advertisement Welcome to Med Help International A not-for-profit organization Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Machado-Joseph Disease Topic Area: Ataxia Forum: The Neurology and Neurosurgery Forum Question Posted By: Eleonora on Wednesday, July 26, 2000 I'm 42 years old and was diagnosed with type III Spino-cerebellar ataxia (MJD) through a DNA examination three years ago. I decided by myself do exercises, physiotherapy and phonoaudiology in order to help me keep walking, talking and swallowing as long as I can. My mother also had this disease, and she died with 54 years old. I have a symptom she never had, diplopia, and I could find nothing to relieve this up to now, and it seems to get worse. I have miopia too, so when things get too bad, I put a tag over the lens on the eye with which I see worse, so I see only one image. But it also makes my balance worse, and when I take it off, my diplopia seems also worse.Do you have any physiotherapy, exercice or medicine to indicate me? Recently, I started having tremors on my hands, when at rest or doing light movements. When it is bothering me to sleep, I simply lay down on my hands, so I do not allow them to shake. What can I do for this (in a more effective way?)

22. International Joseph Disease Foundation Joseph disease are considered to be one and the same, about the year 1981, medicalresearchers began referring to the disorder as machadojoseph disease or MJD http://www.shasta.com/bastiana/history.html

What's MJD? MJD Research Founding of IJDF IJDF Memorials ... E-Mail Us Prepared by Rose Marie Silva for IJDF. March 18, 1994. With the advent of a new disease entity, Joseph family members, friends and professionals joined together in 1977 to form the International Joseph Diseases Foundation, a non-profit corporation. Members of the new Board of Directors and physicians were aware of Machado disease and other existing disorders affecting persons of Portuguese ancestry. It was decided to make the word disease plural in the new foundations name to encompass these other neurological diseases. In 1979, scientists working with the Joseph family established, through clinical and pathological studies, that Joseph disease could be expressed in three different ways, with varying symptoms and ages of onset of the disease. Medical researchers have documented the three types of the disease in scientific articles. Due to this variation, Joseph Disease has been referred to as a mysterious disease. During the year, 1980, research teams concluded that both Machado and Joseph disease could be clinically expressed as Type 31. Because Machado and Joseph disease are considered to be one and the same, about the year 1981, medical researchers began referring to the disorder as Machado-Joseph disease or MJD: Machado for the first family described and Joseph for the largest family affected. With the publication of medical articles written by teams of scientist researching both Machado and Joseph disease in the United States, Canada and Portugal, other physicians from within the United States and from other countries realized that some of their patients were also expressing symptoms of the disease. In 1980, it was medically established that the disease can affect persons of other ethnic backgrounds, not just those of Portuguese descent. Due to increased knowledge and worldwide education, Machado-Joseph disease has been documented on five continents. Countries where patients have been reported in medical articles include Japan, China, India, Brazil, the Azores Islands, Spain, Canada, Australia, Taiwan, Italy, and the United States (and possibly other countries from which we have not heard.)

23. CAG Expansions In A Novel Gene For Machado-Joseph Disease At Chromosome 14q32.1 CAG Expansions in a Novel Gene for machadojoseph disease at Chromosome14q32.1. Akira Kakizuka. Department of Pharmacology, Kyoto http://www.genome.ad.jp/manuscripts/France_Japan/abstract/FJBGW9412.html

CAG Expansions in a Novel Gene for Machado-Joseph Disease at Chromosome 14q32.1 Akira Kakizuka Department of Pharmacology, Kyoto University Faculty of Medicine, Kyoto 606, Japan. FJBGW9412 (The First France-Japan Bilateral Genome Workshop, 1994)

24. Arch Neurol -- Page Not Found Causes of Death in machadojoseph disease A Case-Control Study in the Azores (Portugal)Author Information Manuela Lima, PhD; Paula Coutinho, MD, PhD; Augusto http://archneur.ama-assn.org/issues/v55n10/abs/noc7392.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

25. Arch Neurol -- Page Not Found Improvement in the Molecular Diagnosis of machadojoseph disease Author InformationPatrícia Maciel, PhD; Maria do Carmo Costa, BSc; Anabela Ferro, BSc http://archneur.ama-assn.org/issues/v58n11/abs/noc10138.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

26. Emory Genetics Lab, Machado-Joseph Disease/SCA-3 machadojoseph disease. INDICATIONS. machado-joseph disease (MJD) is a form of multiplesystem atrophy that is inherited in an autosomal dominant fashion. http://www.emory.edu/WHSC/GENETICSLAB/dna/machado.htm

MACHADO-JOSEPH DISEASE INDICATIONS Machado-Joseph disease (MJD) is a form of multiple system atrophy that is inherited in an autosomal dominant fashion. Although MJD was originally described in a Portuguese-Azorean family, it occurs in all ethnic groups. Clinical manifestations include cerebellar ataxia, pyramidal and extrapyramidal signs, and external ophthalmoplegia. Diagnosis is difficult due to similarities with SCA-1, DRPLA and Familial Spastic Paraplegia. MJD is caused by an abnormal expansion in a CAG trinucleotide repeat within the MJD1 gene located on chromosome 14. Normal individuals have 12-24 CAG repeats while individuals with MJD generally have over 40 CAG repeats. Genetic analysis is performed by PCR. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood 5-10 ml whole blood in an EDTA ( purple top ) or ACD ( yellow top ) tube. Ship sample at room temperature within 24 hours. If you cannot send the specimen the same day as it was collected, hold at room temperature and send within 48 hours. Prenatal Diagnosis from CVS or Amniocentesis Call first.

27. Pathology Molecular Genetics Machado Joseph Disease INDICATIONS FOR TESTING The clinical features of machadojoseph disease (spinocerebellarataxia type 3, MJD1, SCA3) include cerebellar ataxia associated with http://www.allkids.org/Specialties/Pathology/Pages/Molecular_Genetics_Machado_Jo

INDICATIONS FOR TESTING: The clinical features of Machado-Joseph Disease (spinocerebellar ataxia type 3, MJD1, SCA3) include cerebellar ataxia associated with variable dystonic-rigid extrapyramidal symptoms or peripheral amyotrophy. Other clinical features may include Parkinsonianism or a combined syndrome of dystonia and peripheral neuropathy. Onset is variable but is usually in the second to fourth decade with longevity from 6 to 29 after onset. This disorder is autosomal dominant and may be characterized by markedly increased severity in sucessive generations, a phenomenon known as genetic anticipation. MJD is caused by expansion of an unstable trinucleotide (CAG) repeat in the first exon of the MJD gene in the chromosomal region 14q21. TESTING OFFERED: The majority (~100%) of affected individuals have the CAG repeat expansion in the MJD gene that is readily detected. This repeat is polymorphic, with 12-43 repeats found in unaffected individuals, and from 56 to 86 repeats in affected individuals. There is an inverse correlation of repeat length with disease severity. TURN-AROUND TIME: Most testing is completed within a time of 21 days following specimen receipt. Prenatal testing is usually completed within 7 days from specimen receipt.

28. Nature Publishing Group Article. Study of three intragenic polymorphisms in the machadojoseph diseasegene (MJD1) in relation to genetic instability of the (CAG) n tract. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v7/n2/abs/5200264a

29. Machado-Joseph Disease The Official Patient's Sourcebook on machadojoseph disease (Autosomal DominantSpinocerebellar Degeneration; Azorean Neurologic Disease; Machado Disease http://www.icongrouponline.com/health/Machado-Joseph_Disease.html

ICON Health Publications Official Health Sourcebooks The Official Patient's Sourcebook on MACHADO-JOSEPH DISEASE (Autosomal Dominant Spinocerebellar Degeneration; Azorean Neurologic Disease; Machado Disease; Machado-Joseph Disease; Nigrospinodentatal Degeneration; Spinocerebellar Ataxia Type III; Striatonigral Degeneration, Autosomal Dominant Type) Revised and Updated for the Internet Age Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Electronic File * E-Book version sent via e-mail in 2 business days Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Machado-Joseph Disease. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Autosomal Dominant Spinocerebellar Degeneration; Azorean Neurologic Disease; Machado Disease; Machado-Joseph Disease; Nigrospinodentatal Degeneration; Spinocerebellar Ataxia Type III; Striatonigral Degeneration, Autosomal Dominant Type Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Machado-Joseph Disease: Guidelines

30. Machado-Joseph Disease machadojoseph disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic DominantCerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy http://www.bdid.com/machado.htm

HOME Machado-Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia) HONselect - Machado-Joseph Disease MACHADO-JOSEPH DISEASE INTERNATIONAL JOSEPH DISEASES FOUNDATION Machado Joseph Disease - Information and Support Resources ... HOME

31. Healthfinder® — Machado-Joseph Disease Fact Sheet machadojoseph disease Fact Sheet. internet URL. description. machado-joseph disease(MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=7220&lang=1

32. Health Library: All Topics: N: Neurological Diseases - Healthfinder® machadojoseph disease Fact Sheet machado-joseph disease (MJD)-alsocalled spinocerebellar ataxia type 3-is a rare hereditary ataxia. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=5326

33. ClinicalTrials.gov - Linking Patients To Medical Research Search Query Details. No studies were found for machadojoseph disease ALL-FIELDS.Modify Your Search. Individual Terms, Count. machado-joseph disease , None. http://www.clinicaltrials.gov/search/term=Machado-Joseph Disease

34. Machado-Joseph Disease - General Practice Notebook medical information from General Practice Notebook. machadojoseph disease. Machado-Josephdisease is an autosomal dominant neuromuscular degenerative disease. http://www.gpnotebook.co.uk/cache/-234487767.htm

Machado-Joseph disease Machado-Joseph disease is an autosomal dominant neuromuscular degenerative disease. The clinical features are primarily cerebellar ataxia and ophthalmoplegia. Machado-Joseph disease is also termed spinocerebellar ataxia type 3. Click here for more information...

35. The Friends Of The Machado-Joseph Disease Nucleus The Friends of the machadojoseph disease Nucleus Manitoba, Canada E-mail albri@idirect.com(Jose Alfredo Brites) 6/2000, Bron / Source http//www.internaf http://www.ataxie.nl/organisaties/naam_organisatie/the_friends_of_the_machado-jo

Werkgever gezocht voor: kwaliteitsanalist / ICT testspecialist / webmaster / beleidsmedewerker De informatie op deze pagina's wordt u aangeboden door de patiëntenvereniging ADCA-Vereniging Nederland Home : Cerebellaire atrofie/ataxie ] Bunnik, 17 mei 2003: Landelijke contactdag ADCA-Vereniging Nederland. Thema: Wetenschappelijk onderzoek. The Friends of the Machado-Joseph Disease Nucleus Manitoba, Canada E-mail: albri@idirect.com (Jose Alfredo Brites) 6/2000, Bron / Source: http://www.internaf.org Canada; English; SCA-3. Home Inhoud Zoeken ADCA-Vereniging Nederland Adres: ADCA-Vereniging Nederland, Fazantenkamp 839, NL-3607 EC Maarssen. Tel.: 0346-563913 (+31 346-563913). Fax: 0346-580417 (+31 346 580417). E-mail: info@ataxie.nl Telefonisch spreekuur op dinsdag en donderdag tussen 14:00 en 16:00 uur. Kamer van Koophandel (Chamber of Commerce) ( kvk.nl ) Utrecht, Nederland, nr. 40482798. Postbank (National Girobank), nr. 6932464, AVN - Maarssen - Nederland. Redactie en beheer: Marco Meinders

36. Machado-Joseph (SCA-3) The Friends of the machadojoseph disease Nucleus Manitoba, Canada E-mail albri@idirect.com(Jose Alfredo Brites) 6/2000, Bron / Source http//www.internaf http://www.ataxie.nl/organisaties/org_ataxia_mjd.html

Werkgever gezocht voor: kwaliteitsanalist / ICT testspecialist / webmaster / beleidsmedewerker De informatie op deze pagina's wordt u aangeboden door de patiëntenvereniging ADCA-Vereniging Nederland Home : Cerebellaire atrofie/ataxie ] Inhoud Zoeken Wijzigingenhistorie Nieuws en agenda ... Ataxie van Friedreich [ Machado-Joseph (SCA-3) ] Bunnik, 17 mei 2003: Landelijke contactdag ADCA-Vereniging Nederland. Thema: Wetenschappelijk onderzoek. Machado-Joseph (SCA-3) International Joseph Diseases Foundation P.O. Box 994268 Redding, CA 96099 Phone: 530-246-4722 Fax: 530-232-2773 Website: www.ijdf.net Email: MJD@ijdf.net Source: International Joseph Diseases Foundation, 16-01-2003. United States of America; English; SCA-3. Machado-Joseph Family Network Massachussets , USA E-mail: mjdnet@pcix.com http://www.concentric.net/~Todd00/windex.htm (werkt niet / broken) United States of America; English; SCA-3. The Friends of the Machado-Joseph Disease Nucleus Manitoba, Canada

37. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders International Joseph Disease Foundation Offers education, medical referrals, updates,and support to all individuals interested in machado-joseph disease. http://www.1uphealth.com/links/genetic-disorders-machado-joseph.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Machado-Joseph Description See Related Categories Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Neurological Disorders: Spinal Cord: Spinocerebellar Degenerations Sites International Joseph Disease Foundation Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease. Machado-Joseph Disease Fact Sheet Developed by the National Institute of Neurological Disorders and Stroke (NINDS). Machado-Joseph Information A definition of joseph disease with a look at the symptoms, diagnosis, how it is inherited and research. MJD Fact Sheet In depth look at machado-joseph disease with some resources for further reading. MJD: Getting Help Information about machado-joseph disease, genetic counselling, access to medical care and improving life quality.

38. Health Library - Joseph's Disease machadojoseph disease; MJD; Nigrospinodentatal Degeneration; Striatonigral Degeneration,Autosomal Dominant Type; Spinocerebellar Ataxia Type III (SCA 3). http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

39. Health In The XXI Century: A Vision Of The European Youth machadojoseph disease. The research in Portugal MJD, a research project. Molecular TEXT. machado-joseph disease an ataxia without cure. Doroteia http://www.cienciaviva.pt/healthXXI/pedrov_dmj/index.asp?lang=en

40. Sudarsky Sudarsky L, Corwin L, Dawson D; machadojoseph disease in New England clinicaldescription and distinction from the olivopontocerebellar atrophies, Movement http://neuro-oas.mgh.harvard.edu/alzheimers/research/Publications/sudarsky.html

Lewis R. Sudarsky, M.D. 1. Fernstrom J, Hirsh M, Madras B, and Sudarsky L: Effects of Skim Milk, Whole Milk, and Light Cream on Serum Tryptophan Binding and Brain Tryptophan in Rats, Journal of Nutrition, 105:1359-62, 1975. 2. Papanicolaou N, McNeil B, Funkenstein H, and Sudarsky L: Abnormal Cisternogram Associated with Diamox Therapy, Journal of Nuclear Medicine, 19:501-504, 1978. 3. Sabra AF, Hallett M. Sudarsky L, and Mullally, W: Treatment of Action Tremor in Multiple Sclerosis with Isoniazid, Neurology, 32:812-13, 1982. 4. Choi D, Sudarsky L. Schachter S, Biber M, and Burke P: Medial Thalamic Hemorrhage with Amnesia, Archives of Neurology, 40:611-13, 1983. 5. Sudarsky L. and Ronthal M: Gait Disorders among Elderly Patients: A Survey Study of 50 Patients, Archives of Neurology, 40:740-43, 1983. 6. Sudarsky L, Myers R, and Walshe T: Huntington's Disease in Monozygolic Twins reared apart, Journal of Medical Genetics, 20:408-11, 1983. 7. Sudarsky L, and Simon S. Gait Disorder in Normal Pressure Hydrocephalus, Archives of Neurology 44:263-67, 1987. 8. Cohen L, Hallett M, Sudarsky L: A Single Family with Writer's Cramp, Essential Tremor and Primary Writing Tremor, Movement Disorders, 2:109-116, 1987.

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