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Machado-Joseph Disease (Spinocerebellar Ataxia Type 3)

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 MUSCULAR 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)
Also Known As:
Spinocerebellar Ataxia Type 3; Joseph Disease; Disease, Joseph; Autosomal Dominant Striatonigral Degeneration; Azorean Ataxia; Azorean Disease (Machado-Joseph); Azorean Disease, Nervous System; Azorean Neurologic Disease; Joseph Azorean Disease; Machado-Joseph Azorean Disease; Machado-Joseph Disease Type I; Machado-Joseph Disease Type II; Machado-Joseph Disease Type III; Machado-Joseph Disease Type IV; Nervous System Azorean Disease; Nigrospinodentatal Degeneration; Spinocerebellar Ataxia 3; Spinocerebellar Ataxia-3; Spinocerebellar Atrophy III; Spinocerebellar Atrophy Type 3; Type 3 Spinocerebellar Ataxia; Type I Machado-Joseph Disease; Type II Machado-Joseph Disease; Type III Machado-Joseph Disease; Type IV Machado-Joseph Disease; 3s, Spinocerebellar Ataxia; Ataxia 3, Spinocerebellar; Ataxia 3s, Spinocerebellar; Atrophy III, Spinocerebellar; Atrophy IIIs, Spinocerebellar; Azorean Disease (Machado Joseph); Degeneration, Nigrospinodentatal; Degenerations, Nigrospinodentatal; Disease, Azorean; Disease, Azorean (Machado-Joseph); Disease, Azorean Neurologic; Disease, Joseph Azorean; Disease, Machado-Joseph; Disease, Machado-Joseph Azorean; III, Spinocerebellar Atrophy; Machado Joseph Azorean Disease; Machado Joseph Disease; Machado Joseph Disease Type I; Machado Joseph Disease Type II; Machado Joseph Disease Type III; Machado Joseph Disease Type IV; Neurologic Disease, Azorean; Nigrospinodentatal Degenerations; Spinocerebellar Ataxia 3s; Spinocerebellar Atrophy IIIs; Type I Machado Joseph Disease; Type II Machado Joseph Disease; Type III Machado Joseph Disease; Type IV Machado Joseph Disease; Azorean Disease; Striatonigral Degeneration, Autosomal Dominant
Networked: 610 relevant articles (17 outcomes, 53 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Machado-Joseph Disease (Spinocerebellar Ataxia Type 3)
2. Neurodegenerative Diseases (Neurodegenerative Disease)
3. Spinocerebellar Ataxias (Spinocerebellar Ataxia)
4. Huntington Disease (Huntington's Disease)
5. Ataxia (Dyssynergia)

Experts

1. Paulson, Henry L: 29 articles (01/2022 - 06/2003)
2. Maciel, Patrícia: 24 articles (02/2022 - 06/2009)
3. Pereira de Almeida, Luís: 22 articles (01/2022 - 10/2008)
4. Riess, Olaf: 20 articles (07/2022 - 03/2002)
5. Klockgether, Thomas: 17 articles (01/2022 - 10/2003)
6. Nóbrega, Clévio: 17 articles (01/2022 - 06/2010)
7. Schmidt, Thorsten: 16 articles (07/2022 - 03/2002)
8. Lima, Manuela: 16 articles (01/2022 - 05/2010)
9. Jiang, Hong: 16 articles (12/2020 - 06/2005)
10. Todi, Sokol V: 15 articles (12/2021 - 10/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Machado-Joseph Disease:
1. polyglutamineIBA
2. Trimethoprim (Proloprim)FDA LinkGeneric
3. SulfamethoxazoleFDA LinkGeneric
4. CitalopramFDA LinkGeneric
5. LithiumIBA
6. Proteins (Proteins, Gene)FDA Link
7. Ataxin-3IBA
8. GuanineIBA
9. AdenineFDA LinkGeneric
10. CytosineIBA

Therapies and Procedures

1. Transcranial Magnetic Stimulation
2. Therapeutics
3. Transcranial Direct Current Stimulation
4. Intravenous Administration
5. Occupational Therapy (Therapy, Occupational)