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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 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)

Synonym(s): Azorean Disease / Joseph Disease / Spinocerebellar Ataxia Type 3 / Striatonigral Degeneration, Autosomal Dominant / 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 / 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
MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Machado-Joseph Disease"
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Broader term(s): - Spinocerebellar Ataxias - Cerebellar Ataxia - Cerebellar Diseases - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases

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Broader term(s): - Nervous System Diseases
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Broader term(s): - Nervous System Diseases

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  Broader term(s):
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Heredodegenerative Disorders, Nervous System
                      Spinocerebellar Degenerations
                          Spinocerebellar Ataxias 
      Diseases
          Nervous System Diseases
              Neurologic Manifestations
                  Dyskinesias
                      Ataxia
                          Cerebellar Ataxia
                              Spinocerebellar Ataxias 
              Neurodegenerative Diseases
                  Heredodegenerative Disorders, Nervous System
                      Spinocerebellar Degenerations
                          Spinocerebellar Ataxias 
              Central Nervous System Diseases
                  Spinal Cord Diseases
                      Spinocerebellar Degenerations
                          Spinocerebellar Ataxias 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Brain Diseases
                      Cerebellar Diseases
                          Spinocerebellar Degenerations
                              Spinocerebellar Ataxias 
                          Cerebellar Ataxia
                              Spinocerebellar Ataxias 

MeSH 2010 © U.S. National Library of Medicine®.

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