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Machado-Joseph Disease (CUI C0024408) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0024408

NCI Thesaurus Code: C84830  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.

RADLEX 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) [MeSH]

GARD Definition: Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3). - this information is from GARD/ORDR/NCATS.

MSH 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)

Synonyms & Abbreviations: (see Synonym Details)
3s, Spinocerebellar Ataxia
Ataxia 3, Spinocerebellar
Ataxia 3s, Spinocerebellar
Atrophy III, Spinocerebellar
Atrophy IIIs, Spinocerebellar
Autosomal dominant striatonigral degeneration
Azorean Ataxia
AZOREAN DIS MACHADO JOSEPH
AZOREAN DIS NERVOUS SYSTEM
Azorean disease (disorder)
Azorean Disease (Machado Joseph)
Azorean Disease (Machado-Joseph)
Azorean disease of the nervous system
Azorean Disease, Nervous System
Azorean Disease
AZOREAN DIS
Azorean neurologic disease
Degeneration, Nigrospinodentatal
Degenerations, Nigrospinodentatal
Disease, Azorean (Machado-Joseph)
Disease, Azorean Neurologic
Disease, Azorean
Disease, Joseph Azorean
Disease, Joseph
Disease, Machado-Joseph Azorean
Disease, Machado-Joseph
III, Spinocerebellar Atrophy
Joseph Azorean Disease
JOSEPH AZOREAN DIS
Joseph Disease
JOSEPH DIS
Machado disease
Machado Joseph Azorean Disease
MACHADO JOSEPH AZOREAN DIS
Machado Joseph disease
MACHADO JOSEPH DIS
Machado-Joseph Azorean Disease
Machado-Joseph Disease [Disease/Finding]
Machado-Joseph disease
Machado-Joseph-Erkrankung
MJD - Machado-Joseph disease
MJD
Nervous System Azorean Disease
NERVOUS SYSTEM AZOREAN DIS
Neurologic Disease, Azorean
Nigrospinodentatal Degenerations
Nigrospinodentatal degeneration
Portuguese-Azorean disease
SCA3
Spinocerebellar Ataxia 3s
Spinocerebellar ataxia 3
SPINOCEREBELLAR ATAXIA TYPE 003
Spinocerebellar ataxia type 3
Spinocerebellar Ataxia-3
Spinocerebellar Atrophy IIIs
Spinocerebellar Atrophy III
Spinocerebellar atrophy type 3
SPINOPONTINE ATROPHY
Striatonigral Degeneration, Autosomal Dominant
Type 3 Spinocerebellar Ataxia

External Source Codes: 
NCI Thesaurus Code C84830 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID X002P SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 34756 GARD
DISEASE_IDENTIFIER_ID 34757 GARD
DISEASE_IDENTIFIER_ID 34758 GARD
DISEASE_IDENTIFIER_ID 34759 GARD
DISEASE_IDENTIFIER_ID 34760 GARD
DISEASE_IDENTIFIER_ID 4126 GARD
DISEASE_IDENTIFIER_ID 4127 GARD
DISEASE_IDENTIFIER_ID 4128 GARD
DISEASE_IDENTIFIER_ID 4129 GARD
DISEASE_IDENTIFIER_ID 4130 GARD
DISEASE_IDENTIFIER_ID 4131 GARD
DX 19940101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,4,q,3,2,.,1,2, OMIM
GENESYMBOL ATXN3 OMIM
GENESYMBOL MJD OMIM
GENESYMBOL SCA3 OMIM
HAS_GARD_PAGE true GARD
HN 94; was see SPINOCEREBELLAR DEGENERATION 1987-93 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-03-02T00:00:00 GARD
MDA 19930216 MSH
MESH_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) NDFRT
MESH_DUI D017827 NDFRT
MESH_NAME Machado-Joseph Disease NDFRT
MESH_UI M0026933 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160628 MSH
MN C10.228.140.252.190.530.530 MSH
MN C10.228.140.252.700.700.500 MSH
MN C10.228.854.787.875.500 MSH
MN C10.574.500.825.700.500 MSH
MN C10.597.350.090.500.530.530 MSH
MN C16.320.400.780.875.500 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 183085 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003643 NDFRT
OL use SPINOCEREBELLAR DEGENERATION to search MACHADO-JOSEPH DISEASE 1987-93 MSH
PM 94; was see SPINOCEREBELLAR DEGENERATION 1987-93 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6801/spinocerebellar-ataxia-3/resources/1 GARD
RXAUI 3112655 RXNORM
RXAUI 3112811 RXNORM
RXAUI 3112813 RXNORM
RXAUI 3112814 RXNORM
RXAUI 3183685 RXNORM
RXAUI 3183686 RXNORM
RXAUI 3196020 RXNORM
RXAUI 3196021 RXNORM
RXAUI 3196026 RXNORM
RXAUI 3205790 RXNORM
RXAUI 3239800 RXNORM
RXAUI 3239809 RXNORM
RXAUI 3240818 RXNORM
RXAUI 3251675 RXNORM
RXAUI 4222145 RXNORM
RXAUI 4223502 RXNORM
RXAUI 4223848 RXNORM
RXAUI 5039969 RXNORM
RXAUI 5039970 RXNORM
RXAUI 5930295 RXNORM
RXCUI 1023104 RXNORM
SNOMED_CID 91952008 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G11.2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G11.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G11.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G11.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X002P SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T053282 MSH
TERMUI T053283 MSH
TERMUI T053284 MSH
TERMUI T053285 MSH
TERMUI T369302 MSH
TERMUI T369303 MSH
TERMUI T369304 MSH
TERMUI T369305 MSH
TERMUI T369306 MSH
TERMUI T369311 MSH
TERMUI T369312 MSH
TERMUI T369313 MSH
TERMUI T372800 MSH
TERMUI T782979 MSH
TERMUI T782980 MSH
TERMUI T782981 MSH
TERMUI T811723 MSH
TERMUI T816522 MSH
TERMUI T842523 MSH
TH GHR (2014) MSH
TH NLM (1994) MSH
TH NLM (2000) MSH
TH NLM (2012) MSH
TH NLM (2013) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0024408

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