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DeCS
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Descriptor English:
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Machado-Joseph Disease
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Descriptor Spanish:
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Enfermedad de Machado-Joseph
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Descriptor Portuguese:
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Doença de Machado-Joseph
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Synonyms English:
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3s, Spinocerebellar Ataxia
Ataxia 3, Spinocerebellar
Ataxia 3s, Spinocerebellar
Atrophy III, Spinocerebellar
Atrophy IIIs, Spinocerebellar
Autosomal Dominant Striatonigral Degeneration
Azorean Ataxia
Azorean Disease
Azorean Disease (Machado Joseph)
Azorean Disease (Machado-Joseph)
Azorean Disease, Nervous System
Azorean Neurologic Disease
Degeneration, Nigrospinodentatal
Degenerations, Nigrospinodentatal
Disease, Azorean
Disease, Azorean (Machado-Joseph)
Disease, Azorean Neurologic
Disease, Joseph
Disease, Joseph Azorean
Disease, Machado-Joseph
Disease, Machado-Joseph Azorean
III, Spinocerebellar Atrophy
Joseph Azorean Disease
Joseph Disease
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
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
Neurologic Disease, Azorean
Nigrospinodentatal Degeneration
Nigrospinodentatal Degenerations
Spinocerebellar Ataxia 3
Spinocerebellar Ataxia 3s
Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia-3
Spinocerebellar Atrophy III
Spinocerebellar Atrophy IIIs
Spinocerebellar Atrophy Type 3
Striatonigral Degeneration, Autosomal Dominant
Type 3 Spinocerebellar Ataxia
Type I Machado Joseph Disease
Type I Machado-Joseph Disease
Type II Machado Joseph Disease
Type II Machado-Joseph Disease
Type III Machado Joseph Disease
Type III Machado-Joseph Disease
Type IV Machado Joseph Disease
Type IV Machado-Joseph Disease
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Tree Number:
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C10.228.140.252.190.530.530
C10.228.140.252.700.700.500
C10.228.854.787.875.500
C10.574.500.825.700.500
C10.597.350.090.500.530.530
C16.320.400.780.875.500
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Definition English:
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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) |
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History Note English:
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94; was see SPINOCEREBELLAR DEGENERATION 1987-93
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Allowable Qualifiers English:
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Record Number:
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31322
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Unique Identifier:
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D017827
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Occurrence in VHL:
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Similar:
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DeCS
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