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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
What is machadojoseph disease? machado-joseph disease studies. What are the different types of machado-joseph disease? The types
http://www.ninds.nih.gov/health_and_medical/pubs/machado-joseph.htm
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Table of Contents
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. The severity of the disease is related to the age of onset, with earlier onset associated with a more severe form of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is also a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. For those who die early from the disease, the cause of death is often aspiration pneumonia.

2. 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
What's MJD?
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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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3. NINDS Machado-Joseph Disease Information Page
More about machadojoseph disease, Studies with patients, Research literature, Press releases, NINDS machado-joseph disease Information Page Reviewed 11-30-2001
http://www.ninds.nih.gov/health_and_medical/disorders/machado-joseph.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
Machado-Joseph Disease
Studies with patients Research literature Press releases
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NINDS Machado-Joseph Disease Information Page
Reviewed 11-30-2001 Get Web page suited for printing
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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. Physiotherapy can help patients cope with disability associated with gait problems, and physical aids, such as walkers and wheelchairs, can assist the patient with everyday activities. Other problems, such as sleep disturbances, cramps, and urinary dysfunction, can be treated with medications and medical care. What is the prognosis?

4. MACHADO /JOSEPH'S DISEASE INFORMATION
MACHADO /JOSEPH S DISEASE INFORMATION. DOENÇA MACHADOJOSEPH (em Portugues). (I have heard the term machado-joseph disease used.
http://www.lusaweb.com/machado.htm
MACHADO /JOSEPH'S DISEASE INFORMATION
A Collection of Articles and Links to Joseph's Disease Information Resources.
Help us keep this page up to date by submitting new information resources. We are also interested in Portuguese language information about this disease. Please send in sugestions on how to improve this page
What is Joseph disease?
Joseph disease is a fatal genetic disorder of the nervous system that cripples and paralyzes while leaving the intellect intact. The disease is characterized by weakness in the arms and legs and a general loss of motor control that eventually confines the paitent to a wheelchair. symptoms appear when a defective gene causes a breakdown and loss of cells in a specific areas of the brain known as the striatum, the cerebellum, and the substantia nigra, but what sets this process in motion is still unknown. There is as yet no effective treatment.
Joseph disease , first documented in the 1970's, is named for Antone Joseph, a Portuguese sailor with the defective gene who came to California in 1845. The disease occurs primarily in people of Portuguese ancestry, but it has also been found in other ethnic groups, nationalities, and races.
What are its symptoms?

5. 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. G. Stevanin
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.

6. Doença Machado-Joseph
machadojoseph disease. Last update November 10, 2000. Questions or Comments Please E-mail Webmaster. Copyright © 2000 Albri Software Designer. All rights reserved. -
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MACHADO-JOSEPH DISEASE
Last update:
November 10, 2000

Questions or Comments Please E-mail: Webmaster

7. Machado-Joseph Disease
HONselect machado-joseph disease. machado-joseph disease. INTERNATIONAL JOSEPH DISEASES FOUNDATION. Machado Joseph Disease - Information and Support Resources. MACHADO /JOSEPH'S DISEASE INFORMATION. machado-joseph disease; MJD
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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http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?109150

9. Pediatric Database
In depth look at this machadojoseph disease, starting with a definition, epidemiology, pathogenesis, clinical features, investigation and management.
http://www.icondata.com/health/pedbase/files/MACHADO-.HTM

10. Portuguese Connection
HISTORY AND EPIDEMMIOLOGY machadojoseph disease was first described in North America among immigrants from the Portugese Azores.
http://www.lusaweb.com/machado1.htm
HISTORY AND EPIDEMMIOLOGY
CLINICAL PRESENTATION
Machado-Joseph disease is a dominently-inherited disorder with a wide range of clinical expression. In general terms, all patients with MJD have an affected parent. Each of their siblings and children has a %50 chance of developing the disorder, and is considered "at risk". The mean age of onset is 35 in the New England families, but the range(10-64) includes patients with onset into the seventh decade. There appears to be a relation between the clinical ppresentation, the age of onset, and the rate of progression.
Progressive incoordination (Ataxia) is the most consistant manifestation. Balance is impaired and stumbling is an early and typical feature. Other associated features include slurred speech (dyarthria) and abnormal eye movements. In some of the affected patients lid retraction produces a characteristic staring expression. Some experience double vision.
There is a great deal of variability in other features of the illness. Some patients have a great deal of muscular rigidity, stiffness, and abnormal postures (dystonia). Such individuals are said to have type I MJD. They usually experience onset of symptoms before age 25. For others, the illness begins later in life and is associated with muscle atrophy and sensory loss in the legs, with depressed reflexes. This is known as type III MJD. In the late stages of the illness, many affected patients experience wieght loss and sleep disturbance. The has been complete preservation of intelectulal function in all patiens.

11. MJD Getting Help
Information about machadojoseph disease, genetic counselling, access to medical care and improving life quality.
http://www.uac.pt/paginas/gain/doenca_i.html

12. Page Not Found
In depth look at machadojoseph disease with some resources for further reading.
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13. Introduction: Machado-Joseph Disease - WrongDiagnosis.com
Introduction machadojoseph disease. machado-joseph disease Rare genetic muscle disease causing muscle weakness. Machado-Joseph
http://www.wrongdiagnosis.com/m/machado_joseph_disease/intro.htm
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Current chapter: Machado-Joseph Disease 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.) Contents for Machado-Joseph Disease: Footnotes: 1. excerpt from

14. NeuroGate.com
Cardioguide Matches 1 2 of 2. machado-joseph disease index - LinkExchange Member machado-joseph disease Index This was my origonal source of info on the disease. It is titled the Joseph Disease Fact Sheet.
http://www.neurogate.com/neuro/result.php3?search=Machado-Joseph Disease&sel

15. Prognosis Of Machado-Joseph Disease - WrongDiagnosis.com
Prognosis of machadojoseph disease. About prognosis The prognosis of machado-joseph disease usually refers to the likely outcome of machado-joseph disease.
http://www.wrongdiagnosis.com/m/machado_joseph_disease/prognosis.htm
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Current chapter: Machado-Joseph Disease Next sections Causes of Machado-Joseph Disease Symptoms of Machado-Joseph Disease Complications of Machado-Joseph Disease Inheritance and Genetics of Machado-Joseph Disease ... Treatments for Machado-Joseph Disease Next chapters: Dentatorubral Pallidoluysian Atrophy Leber's hereditary optic atrophy Kearns-Sayre Syndrome Progressive external ophthalmoplegia ... Feedback
Prognosis of Machado-Joseph Disease
About prognosis: The 'prognosis' of Machado-Joseph Disease usually refers to the likely outcome of Machado-Joseph Disease. The prognosis of Machado-Joseph Disease may include the duration of Machado-Joseph Disease, chances of complications of Machado-Joseph Disease, probable outcomes, prospects for recovery, recovery period for Machado-Joseph Disease, survival rates, death rates, and other outcome possibilities in the overall prognosis of Machado-Joseph Disease. Naturally, such forecast issues are by their nature unpredictable. Prognosis of Machado-Joseph Disease: Variable. Depends on severity. Life-shortening for some.

16. NORD - National Organization For Rare Disorders, Inc.
General Discussion. machadojoseph disease (MJD-III), also called spinocerebellar ataxia type III, is a rare Three forms of machado-joseph disease are recognized Types MJD-I, MJD
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Machado-Josep

17. Machado-Joseph Disease
Welcome to Benvindos a, machadojoseph disease.
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18. HONselect - Machado-Joseph Disease
English machadojoseph disease, - Azorean Disease - Joseph Disease - Spinocerebellar Ataxia Type 3 - Striatonigral Degeneration, Autosomal Dominant - Autosomal
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 ACORES Deutsch: Machado-Joseph-Krankheit - Azoren-Krankheit - Joseph-Krankheit - Spinozerebellare Ataxie, Typ 3 - Striatonigrale Degeneration, automal-dominante - Joseph-Azoren-Krankheit - Machado-Krankheit Español: ENFERMEDAD DE MACHADO-JOSEPH - ENFERMEDAD AZOREANA - ENFERMEDAD DE JOSEPH - ATAXIA ESPINOCEREBELOSA TIPO 3 - DEGENERACION ESTRIATONIGRAL AUTOSOMICA DOMINANTE - ATAXIA ESPINOCEREBELAR TIPO 3 Português: DOENCA DE MACHADO-JOSEPH - DOENCA DOS ACORIANOS - DOENCA DE JOSEPH - ATAXIA ESPINOCEREBELAR TIPO 3 - DEGENERACAO ESTRIATONIGRAL AUTOSSOMICA DOMINANTE 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 Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.700.500.html

19. Machado-Joseph Disease (MJD) / Family Village Library
machadojoseph disease (MJD). Where to Go to Chat with Others. MJD Family Support and encouragement for everyone associated with Machado Joseph Disease.
http://www.familyvillage.wisc.edu/lib_machado.htm
Machado-Joseph Disease (MJD)
Who to Contact
Where to Go to Chat with Others

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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
  • SCA3-MJD SCA3-MJD Communications is a group devoted to sharing research information about Machado Joseph Disease-SCA3 as well as other forms of ataxias. Our goal is to find a cure for MJD.

20. Machado-Joseph Disease
machadojoseph disease Important It is possible that the main title of the report machado-joseph disease is not the name you expected.
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Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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

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