MeSH Browser

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 Established: 1994/01/01
Date of Entry: 1993/02/16
Revision Date: 2016/06/28

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Cerebellar Diseases [C10.228.140.252]
      - Cerebellar Ataxia [C10.228.140.252.190]
        
        Spinocerebellar Ataxias [C10.228.140.252.190.530]
        
        Ataxia Telangiectasia [C10.228.140.252.190.530.060]
        
        Machado-Joseph Disease [C10.228.140.252.190.530.530]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Cerebellar Diseases [C10.228.140.252]
      - Spinocerebellar Degenerations [C10.228.140.252.700]
        
        Spinocerebellar Ataxias [C10.228.140.252.700.700]
        
        Machado-Joseph Disease [C10.228.140.252.700.700.500]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Spinal Cord Diseases [C10.228.854]
    - Spinocerebellar Degenerations [C10.228.854.787]
      - Spinocerebellar Ataxias [C10.228.854.787.875]
        
        Machado-Joseph Disease [C10.228.854.787.875.500]

Nervous System Diseases [C10]
- Neurodegenerative Diseases [C10.574]
  - Heredodegenerative Disorders, Nervous System [C10.574.500]
    - Spinocerebellar Degenerations [C10.574.500.825]
      - Spinocerebellar Ataxias [C10.574.500.825.700]
        
        Machado-Joseph Disease [C10.574.500.825.700.500]

Nervous System Diseases [C10]
- Neurologic Manifestations [C10.597]
  - Dyskinesias [C10.597.350]
    - Ataxia [C10.597.350.090]
      - Cerebellar Ataxia [C10.597.350.090.500]
        
        Spinocerebellar Ataxias [C10.597.350.090.500.530]
        
        Ataxia Telangiectasia [C10.597.350.090.500.530.060]
        
        Machado-Joseph Disease [C10.597.350.090.500.530.530]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]
    - Spinocerebellar Degenerations [C16.320.400.780]
      - Spinocerebellar Ataxias [C16.320.400.780.875]
        
        Machado-Joseph Disease [C16.320.400.780.875.500]

Machado-Joseph Disease Preferred

Concept UI: M0026933
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)
Terms: Machado-Joseph Disease Preferred Term
Term UI T053282
Date01/01/1999
LexicalTag EPO
ThesaurusID; Azorean Disease
Term UI T053283
Date10/08/1992
LexicalTag EPO
ThesaurusID NLM (1994); Joseph Azorean Disease
Term UI T053284
Date10/08/1992
LexicalTag EPO
ThesaurusID NLM (1994); Joseph Disease
Term UI T053285
Date10/08/1992
LexicalTag EPO
ThesaurusID NLM (1994); Spinocerebellar Ataxia Type 3
Term UI T369302
Date11/03/1999
LexicalTag NON
ThesaurusID; Striatonigral Degeneration, Autosomal Dominant
Term UI T369303
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Autosomal Dominant Striatonigral Degeneration
Term UI T369304
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Azorean Disease, Nervous System
Term UI T369305
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Machado-Joseph Azorean Disease
Term UI T369306
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Nervous System Azorean Disease
Term UI T369311
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Spinocerebellar Ataxia-3
Term UI T369312
Date11/03/1999
LexicalTag NON
ThesaurusID; Type 3 Spinocerebellar Ataxia
Term UI T369313
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Azorean Disease (Machado-Joseph)
Term UI T372800
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Spinocerebellar Atrophy Type 3
Term UI T782979
Date12/28/2010
LexicalTag NON
ThesaurusID; Azorean Neurologic Disease
Term UI T782980
Date12/28/2010
LexicalTag EPO
ThesaurusID; Nigrospinodentatal Degeneration
Term UI T782981
Date12/28/2010
LexicalTag NON
ThesaurusID; Spinocerebellar Ataxia 3
Term UI T811723
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Spinocerebellar Atrophy III
Term UI T816522
Date01/25/2012
LexicalTag NON
ThesaurusID NLM (2013); Azorean Ataxia
Term UI T842523
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Machado-Joseph Disease Type I Narrower

Machado-Joseph Disease Type II Narrower

Machado-Joseph Disease Type III Narrower

Machado-Joseph Disease Type IV Narrower

Machado-Joseph Disease MeSH Descriptor Data 2025