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Machado-joseph Disease:     more detail

The Official Patient's Sourcebook on Machado-Joseph Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09 Machado-Joseph disease 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 Machado-Joseph disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Sandra Galeotti, 2005 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 Machado-Joseph disease (SuDoc HE 20.3520:M 18) by U.S. Dept of Health and Human Services, 2001

lists with details

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
   
   Extractions: Request free mailed brochure 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
   
   Extractions: E-Mail Us 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

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
   
   Extractions: 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
   
   Extractions: 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.

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
   
   Extractions: 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. 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. -  
   http://webhome.idirect.com/~albri/indexeng.htm

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

8. Redirect
   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
    
    Extractions: 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.  
    http://glawen.freeyellow.com/joseph3.htm

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

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
    
    Extractions: Feedback 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.

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.  
    http://webhome.idirect.com/~albri/

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

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
    
    Extractions: 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.

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.  
    http://webcenter.health.webmd.netscape.com/hw/health_guide_atoz/nord110.asp

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