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Machado-Joseph Disease MeSH Descriptor Data 2026


MeSH Heading
Machado-Joseph Disease
Tree Number(s)
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
Unique ID
D017827
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D017827
Scope Note
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)
Entry Version
MACHADO JOSEPH DIS
Entry Term(s)
Autosomal Dominant Striatonigral Degeneration
Azorean Ataxia
Azorean Disease
Azorean Disease (Machado-Joseph)
Azorean Disease, Nervous System
Azorean Neurologic Disease
Joseph Azorean Disease
Joseph 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 Type 3
Spinocerebellar Ataxia-3
Spinocerebellar Atrophy III
Spinocerebellar Atrophy Type 3
Striatonigral Degeneration, Autosomal Dominant
Type 3 Spinocerebellar Ataxia
Type I Machado-Joseph Disease
Type II Machado-Joseph Disease
Type III Machado-Joseph Disease
Type IV Machado-Joseph Disease
Previous Indexing
Cerebellar Ataxia (1980-1986)
Spinocerebellar Degeneration (1986-1993)
Public MeSH Note
94; was see SPINOCEREBELLAR DEGENERATION 1987-93
Online Note
use SPINOCEREBELLAR DEGENERATION to search MACHADO-JOSEPH DISEASE 1987-93
History Note
94; was see SPINOCEREBELLAR DEGENERATION 1987-93
Date Introduced
1994/01/01
Last Updated
2016/06/28
Machado-Joseph Disease Preferred
Machado-Joseph Disease Type I Narrower
Machado-Joseph Disease Type II Narrower
Machado-Joseph Disease Type III Narrower
Machado-Joseph Disease Type IV Narrower
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