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Descriptor English: Machado-Joseph Disease
Descriptor Spanish: Enfermedad de Machado-Joseph
Descriptor enfermedad de Machado-Joseph
Entry term(s) ataxia espinocerebelosa de tipo 3
ataxia espinocerebelosa tipo 3
degeneración nigroestriada autosómica dominante
enfermedad azoreana
enfermedad de Joseph
enfermedad de las Azores
Scope note: Ataxia de herencia dominante descrita por vez primera en personas descendientes de azoreanos y portugueses, e identificados posteriormente en Brasil, Japón, China y Australia. Esta enfermedad se clasifica como una de las ATAXIAS ESPINOCEREBELOSAS (Tipo 3) y se asocia con una mutación del gen MJD1 en el cromosoma 14. Las características clínicas incluyen ataxia progresiva, disartria, inestabilidad postural, nistagmo, retracción palpebral y fasciculaciones faciales. La distonía es de gran importancia en pacientes más jóvenes (referidas como la Enfermedad Tipo I de Machado-Joseph). La tipo II se caracteriza por ataxia y signos oculares; la Tipo III se caracteriza por atrofia muscular y neuropatía sensitivomotriz; y la tipo IV se caracteriza por signos extrapiramidales combinados con neuropatía sensitivomotriz. (Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
Descriptor Portuguese: Doença de Machado-Joseph
Descriptor French: Maladie de Machado-Joseph
Entry term(s): 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
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
RDF Unique Identifier: https://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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
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
Entry Version: MACHADO JOSEPH DIS
DeCS ID: 31322
Unique ID: D017827
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1994/01/01
Date of Entry: 1993/02/16
Revision Date: 2016/06/28
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)
Preferred term Machado-Joseph Disease
Entry term(s) 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 Azorean Disease
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
Machado-Joseph Disease Type IV - Narrower
Concept UI M0335647
Preferred term Machado-Joseph Disease Type IV
Entry term(s) Machado Joseph Disease Type IV
Type IV Machado Joseph Disease
Type IV Machado-Joseph Disease
Machado-Joseph Disease Type III - Narrower
Concept UI M0335646
Preferred term Machado-Joseph Disease Type III
Entry term(s) Machado Joseph Disease Type III
Type III Machado Joseph Disease
Type III Machado-Joseph Disease
Machado-Joseph Disease Type I - Narrower
Concept UI M0335644
Preferred term Machado-Joseph Disease Type I
Entry term(s) Machado Joseph Disease Type I
Type I Machado Joseph Disease
Type I Machado-Joseph Disease
Machado-Joseph Disease Type II - Narrower
Concept UI M0335645
Preferred term Machado-Joseph Disease Type II
Entry term(s) Machado Joseph Disease Type II
Type II Machado Joseph Disease
Type II Machado-Joseph Disease



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