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 Disease (Machado-Joseph); Azorean Disease, Nervous System; 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; Spinocerebellar Ataxia-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; Azorean Disease (Machado Joseph); Azorean Diseases (Machado-Joseph); Disease, Azorean; Disease, Azorean (Machado-Joseph); Disease, Joseph Azorean; Disease, Machado-Joseph; Disease, Machado-Joseph Azorean; Diseases, Azorean (Machado-Joseph); 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; Spinocerebellar Ataxia 3; 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: 318 relevant articles (6 outcomes, 30 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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


1. Paulson, Henry L: 16 articles (03/2015 - 06/2003)
2. Maciel, Patrícia: 13 articles (06/2015 - 01/2009)
3. Riess, Olaf: 9 articles (09/2014 - 03/2002)
4. Jiang, Hong: 9 articles (09/2014 - 06/2005)
5. Breuer, Peter: 9 articles (02/2013 - 02/2006)
6. Evert, Bernd O: 9 articles (12/2011 - 02/2003)
7. Tortora, Paolo: 8 articles (01/2015 - 12/2003)
8. Nóbrega, Clévio: 7 articles (12/2015 - 06/2010)
9. Silva-Fernandes, Anabela: 7 articles (02/2015 - 10/2010)
10. Klockgether, Thomas: 7 articles (09/2014 - 10/2003)

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. LithiumIBA
5. tandospironeIBA
6. Serotonin 5-HT1 Receptor AgonistsIBA
7. Citric Acid (Citrate)FDA LinkGeneric
8. Lithium Carbonate (Eskalith)FDA LinkGeneric
9. GliadinIBA
10. Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA

Therapies and Procedures

1. Occupational Therapy (Therapy, Occupational)
2. Transplantation (Transplant Recipients)
3. Injections
4. Vaginal Hysterectomy