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         Machado-joseph Disease:     more detail
  1. The Official Patient's Sourcebook on Machado-Joseph Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09
  2. Machado-Joseph disease
  3. Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).: An article from: Human Biology by Manuela Lima, Francine M. Mayer, et all 1998-12-01
  4. Machado-Joseph disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Sandra Galeotti, 2005
  5. Prevalence, geographic distribution, and genealogical investigations of Machado-Joseph disease in the Azores (Portugal).: An article from: Human Biology by Manuela Lima, Francine Mayer, et all 1997-06-01
  6. Machado-Joseph disease (SuDoc HE 20.3520:M 18) by U.S. Dept of Health and Human Services, 2001

1. Machado-Joseph Disease Fact Sheet: National Institute Of Neurological Disorders
Developed by the National Institute of Neurological Disorders and Stroke (NINDS).
http://www.ninds.nih.gov/disorders/machado_joseph/detail_machado_joseph.htm
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You are here: Home Disorders Machado-Joseph Disease Machado-Joseph Disease Fact Sheet
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Email this to a friend or colleague Request free mailed brochure Table of Contents (click to jump to sections) What is Machado-Joseph Disease? What are the different types of Machado-Joseph Disease? What causes Machado-Joseph Disease? How is Machado-Joseph Disease diagnosed? ... Where can I get more information? What is Machado-Joseph Disease? Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) The disease is characterized by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and/or rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.

2. Machado-Joseph Disease Fact Sheet National Institute Of
More about machadojoseph disease Studies with patients Research literature Press releases. Disclaimer Search NINDS (help)
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3. Machado-Joseph Disease Information Page: National Institute Of Neurological Diso
machadojoseph disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
http://www.ninds.nih.gov/disorders/machado_joseph/machado_joseph.htm
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Science for the Brain
The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Machado-Joseph Disease
Studies with patients

Research literature

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Search NINDS... (help) Contact Us
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NINDS is part of the
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You are here: Home Disorders Machado-Joseph Disease NINDS Machado-Joseph Disease Information Page
Condensed from Machado-Joseph Disease Fact Sheet Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Machado-Joseph Disease? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Machado-Joseph Disease? Is there any treatment? MJD is incurable, but some symptoms of the disease can be treated. For those patients who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Botulinum toxin can also treat severe spasticity as well as some symptoms of dystonia. Speech problems and trouble swallowing can be treated with medication and speech therapy. Physiotherapy can help patients cope with disability associated with gait problems.

4. International Joseph Disease Foundation International Joseph Disease Foundation
Offers education, medical referrals, updates, and support to all individuals interested in machado-joseph disease.
http://www.ijdf.net
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International Joseph Disease Foundation
Welcome to the IJDF Web Site. International Joseph Diseases Foundation (IJDF) is a non-profit charitable corporation formed in 1977. Our mission is to locate individuals and families, worldwide, who may be afflicted with Machado Joseph-Disease (MJD). We offer education, medical referrals, up-dates, and support to all interested individuals. To receive our free newsletter and information on Machado Joseph Disease, contact us at: International Joseph Diseases Foundation
P.O. Box 994268
Redding, CA 96099
Phone Number: (530) 246-4722
E-Mail: MJD@ijdf.net var go_mem="ijdf";
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5. Machado-Joseph Disease
Wide development on the great concern that afects presently thousands of people in the world machadojoseph disease
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6. Introduction: Machado-Joseph Disease - WrongDiagnosis.com
Introduction to machadojoseph disease as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis.
http://www.wrongdiagnosis.com/m/machado_joseph_disease/intro.htm
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Next sections Basic Summary for Machado-Joseph Disease Prevalence and Incidence of Machado-Joseph Disease Prognosis of Machado-Joseph Disease Causes of Machado-Joseph Disease ... Symptoms of Machado-Joseph Disease Next chapters: Dentatorubral Pallidoluysian Atrophy Leber's hereditary optic atrophy Kearns-Sayre Syndrome Progressive external ophthalmoplegia ... Feedback
Introduction: Machado-Joseph Disease
Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness. Machado-Joseph Disease: Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) Researching symptoms of Machado-Joseph Disease: Further information about the symptoms of Machado-Joseph Disease is available including a list of symptoms of Machado-Joseph Disease , or alternatively return to research other symptoms in the symptom center Treatments for Machado-Joseph Disease: Various information is available about treatments available for Machado-Joseph Disease , or research treatments for other diseases.

7. Machado Joseph Disease - Information And Support Resources
Machado Joseph Disease Overview, Screening, Testing, Information and Support Resources
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Symptoms Of Machado-Joseph Disease - WrongDiagnosis.com
Symptoms of machadojoseph disease including signs, symptoms, incubation period, duration, and correct diagnosis.
http://www.wrongdiagnosis.com/m/machado_joseph_disease/symptoms.htm
Home Symptoms Diseases Risks ... Machado-Joseph Disease Search our medical database
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Current chapter:
Machado-Joseph Disease
Next sections Complications of Machado-Joseph Disease Inheritance and Genetics of Machado-Joseph Disease Treatments for Machado-Joseph Disease Statistics about Machado-Joseph Disease ... Statistics by Country for Machado-Joseph Disease Next chapters: Dentatorubral Pallidoluysian Atrophy Leber's hereditary optic atrophy Kearns-Sayre Syndrome Progressive external ophthalmoplegia ... Feedback
Symptoms of Machado-Joseph Disease
General information about symptoms of Machado-Joseph Disease: The symptom information on this page attempts to provide a list of some possible symptoms of Machado-Joseph Disease. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Machado-Joseph Disease. Furthermore, symptoms of Machado-Joseph Disease may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Machado-Joseph Disease. List of symptoms of Machado-Joseph Disease: The list of symptoms mentioned in various sources for Machado-Joseph Disease includes:

9. International Joseph Disease Foundation
Offers education, medical referrals, updates, and support to all individuals interested in machado-joseph disease.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. HONselect - Machado-Joseph Disease
English, machadojoseph disease, - Azorean Disease - Joseph Disease - Spinocerebellar Ataxia Type 3 - Striatonigral Degeneration, Autosomal Dominant
http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.700.500.html
List of rare diseases: English Deutsch
Language:
MeSH term:
Accepted terms:
English: Machado-Joseph Disease - Azorean Disease
- Joseph Disease
- Spinocerebellar Ataxia Type 3
- Striatonigral Degeneration, Autosomal Dominant
- Autosomal Dominant Striatonigral Degeneration
- Azorean Disease (Machado-Joseph)
Français: Joseph, maladie - Maladie Açores Deutsch: Machado-Joseph-Krankheit - Azoren-Krankheit - Joseph-Azoren-Krankheit - Joseph-Krankheit - Machado-Krankheit - Spinozerebellare Ataxie, Typ 3 - Striatonigrale Degeneration, autosomal-dominante Español: Enfermedad de Machado-Joseph - Ataxia Espinocerebelar Tipo 3 - Ataxia Espinocerebelosa Tipo 3 - Degeneración Estriatonigral Autosómica Dominante - Enfermedad Azoreana - Enfermedad de Joseph - Enfermedad de las Azores Português: Doença de Machado-Joseph - Ataxia Espinocerebelar Tipo 3 - Degeneração Estriatonigral Autossômica Dominante - Doença de Joseph - Doença dos Açorianos HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.700.500.html

11. Machado-Joseph Disease
machadojoseph disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Machado-Joseph Disease - Azorean Disease - Information Page With HONselect
A dominantlyinherited ataxia first described in people of Azorean and Portugues
http://www.hon.ch/HONselect/RareDiseases/EN/C10.228.140.252.700.700.500.html
InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese
the word the part of word in MeSH term in MeSH term and description Information on "Machado-Joseph Disease": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese
Machado-Joseph Disease Definition: A dominantly-inherited ataxia first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, dysarthria, postural instability, nystagmus, eyelid retraction, and facial fasciculations. Dystonia is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features muscle atrophy and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
Synonym(s): Azorean Disease / Joseph Disease / Spinocerebellar Ataxia Type 3 / Striatonigral Degeneration, Autosomal Dominant /

13. Arch Neurol Abstract Improvement In The Molecular Diagnosis Of
Topic Collection Alerts Improvement in the Molecular Diagnosis of machadojoseph disease Patr cia Maciel, PhD ; Maria do Carmo Costa, BSc
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14. Neurobiology Of Disease Journal Entry 9
The gene for machadojoseph disease maps to the same 3-cM interval as the spinal machado-joseph disease (MJD) is an autosomal dominant neurodegenerative
http://www.neuro.wustl.edu/journal/jrnl9.htm
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q
G. Stevanin: , P. S. Sousa: , G. Cancel: , A. Durr: , 0. Dubourg: , G. A. Nicholson: , J. Weissenbach: , E. Jardim: , Y. Agid: , E. Cassa: , A. Brice: )INSERM U289, Hopital de la Salpetriere, Paris, France, )Departamento de Neurologia, Hospital das Clinicas, Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brasil, )Department of Medicine, Molecular Genetics and Medicine Laboratory, University of Sydney, Concord Hospital, New South Wales, Australia and )Genethon, Evry, France Correspondence: Dr Alexis Brice, INSERM U289, Hopital de la Salpetriere, 47 Bd de I'Hopital, 75651 Parix Cedex 13, France. Fax: 00/33/l/44.24.36.58.
Summary
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder in families of Portuguese-Azorean ancestry. The gene responsible for MJD has been assigned to a 29-cM interval on chromosome 14q. A large Brazilian family with MJD was genotyped with six new microsatellite markers spanning 19 cM on chromosome 14q. Linkage analysis and haplotype reconstruction reduced the MJD candidate region to a 3-cM interval between markers D14S280 and D14S81, permitting positional cloning. This interval also contains the spinal cerebellar ataxia 3 (SCA3) gene, responsible for a genetic subtype of the type I autosomal dominant cerebellar ataxias, clinically related to MJD. This result supports the hypothesis that abnormalities in the same gene may be responsible for both disorders. The minor clinical differences between the two diseases may result from allelic heterogeneity.

15. Arch Neurol Abstract Brain Single-Photon Emission Computed
Brain SinglePhoton Emission Computed Tomography and Magnetic Resonance Imaging in machado-joseph disease Elba C. S. C. Etchebehere, MD
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16. Machado-Joseph Disease
Machado Joseph Disease (MJD - III), also called spinocerebellar ataxia type III, is a rare, inherited,
http://webcenter.health.webmd.netscape.com/hw/health_guide_atoz/nord110.asp
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... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Machado-Joseph Disease Important It is possible that the main title of the report Machado-Joseph Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
  • Autosomal Dominant Spinocerebellar Degeneration Azorean Neurologic Disease Machado Disease Joseph Disease MJD Nigrospinodentatal Degeneration Striatonigral Degeneration, Autosomal Dominant Type Spinocerebellar Ataxia Type III (SCA 3)
Disorder Subdivisions
  • Machado-Joseph Disease Type I (MJD-I) Machado-Joseph Disease Type II (MJD-II) Machado-Joseph Disease Type III (MJD-III)
General Discussion Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact. The onset of symptoms of MJD varies from early teens to late adulthood.

17. Neurobiology Of Disease Journal Entry 9
The gene for machadojoseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Machado-Joseph Disease (MJD) / Family Village Library
The gene for machadojoseph disease maps to the same 3-cM interval as the spinal machado-joseph disease From National Institutes of Health (NIH)
http://www.familyvillage.wisc.edu/lib_machado.htm
Machado-Joseph Disease (MJD)
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Who to Contact
International Joseph Diseases Foundation, Inc.
P.O. Box 994268
Redding, CA 96099
E-Mail: MJD@ijdf.net
Web: http://www.IJDF.net International Joseph Diseases Foundation (IJDF) is a non-profit charitable corporation formed in 1977. Our mission is to locate individuals and families, worldwide, who may be afflicted with Machado Joseph-Disease (MJD). We offer education, medical referrals, up-dates, and support to all interested individuals.
Ataxia MJD Research Project, Inc.
1425 Alvarado Avenue
Burlingame, CA 94010-1621 E-mail: LDenning@ataxiamjd.org Website: http://www.ataxiamjd.org/ Ataxia MJD Research Project is a nonprofit corporation whose mission is to follow and fund medical research that will help scientists find a cure for Machado-Joseph Disease (MJD) and similar disorders.
Where to Go to Chat with Others
  • MJD Family Support and encouragement for everyone associated with Machado Joseph Disease
Learn More About It

19. Home Page
About machadojoseph disease. machado-joseph disease (SCA3) is a hereditary neurodegenerative condition caused by glutamine-repeat expansion.
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20. Machado-Joseph Disease
machadojoseph disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar
http://www.bdid.com/machado.htm

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Machado-Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia)

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