MJD
MCID: MCH002
MIFTS: 66

Machado-Joseph Disease (MJD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Machado-Joseph Disease

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NIH Rare Diseases:42 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). last updated: 10/23/2014

MalaCards based summary: Machado-Joseph Disease, also known as spinocerebellar ataxia type 3, is related to spinocerebellar ataxia and cerebellar ataxia, and has symptoms including An important gene associated with Machado-Joseph Disease is ATXN3 (ataxin 3), and among its related pathways are Protein processing in endoplasmic reticulum and RNA Polymerase I Promoter Opening. The compounds p-chloroamphetamine and carbon-11 have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and brain, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Disease Ontology:8 A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of cag triplet repeats (glutamine) in the atxn3 gene.

Genetics Home Reference:21 Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.

NINDS:43 Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.

Wikipedia:65 Machado?Joseph disease (MJD), also known as Machado?Joseph Azorean disease or Joseph\'s disease or... more...

Description from OMIM:46 109150

GeneReviews summary for sca3

Aliases & Classifications for Machado-Joseph Disease

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Machado-Joseph Disease, Aliases & Descriptions:

Name: Machado-Joseph Disease 8 9 65 19 21 43 46 10 44 48 62
Spinocerebellar Ataxia Type 3 8 65 19 21 48 62
Mjd 8 19 42 21 48
Azorean Disease 8 22 21
Azorean Ataxia 19 21 62
Sca3 42 21 48
Nigrospinodentatal Degeneration 42 62
Spinocerebellar Atrophy Type 3 42 62
Azorean Neurologic Disease 42 62
Spinocerebellar Ataxia 3 42 20
 
Spinopontine Atrophy 42 62
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia 48
Striatonigral Degeneration, Autosomal Dominant 62
Autosomal Dominant Striatonigral Degeneration 48
Azorean Disease of the Nervous System 48
Spinocerebellar Ataxia-3 62
Machado Joseph Disease 42
Machado Disease 48
Sca 3 19


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
machado-joseph disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


External Ids:

Disease Ontology8 DOID:1440
NCIt39 C84830
SNOMED-CT57 91952008
OMIM46 109150
ICD10 via Orphanet26 G11

Related Diseases for Machado-Joseph Disease

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Diseases in the Machado-Joseph Disease family:

Machado-Joseph Disease Type 1 Machado-Joseph Disease Type 3
Machado-Joseph Disease Type 2

Diseases related to Machado-Joseph Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.7TBP, ATXN3
2cerebellar ataxia31.2ATXN7, ATXN3
3olivopontocerebellar atrophy31.1ATXN3, ATN1
4multiple system atrophy31.0SLC6A3, ATXN3
5dentatorubral-pallidoluysian atrophy30.9TBP, ATN1, ATXN3
6huntington's disease30.5TBP, ATXN3
7dementia30.3HTR1A, TBP, SLC6A3
8hereditary ataxia29.9ATXN3, ATXN7, ATN1, TBP
9ataxia11.1
10neuronitis10.7
11spasticity10.6
12neuropathy10.6
13dystonia10.6
14autonomic dysfunction10.6
15striatonigral degeneration10.5
16spinocerebellar ataxia x-linked type 310.4
17hereditary spastic paraplegia10.4
18muscular atrophy10.4
19rem sleep behavior disorder10.4
20cerebritis10.4
21paraplegia10.4
22peripheral neuropathy10.4
23sleep disorder10.4
24dysphagia10.4
25myoclonus10.4
26machado-joseph disease type 110.4
27machado-joseph disease type 310.4
28machado-joseph disease type 210.4
29spinocerebellar ataxia type 710.4ATXN7
30premature ejaculation10.3HTR1A
31episodic ataxia10.3
32friedreich ataxia10.3
33muscular dystrophy10.3
34episodic ataxia type 210.3
35spinocerebellar ataxia type 810.3
36swallowing disorders10.3
37myokymia10.3
38motor neuron disease10.3
39multiple sclerosis10.3
40azoospermia10.3
41myotonic dystrophy type 110.3
42restless legs syndrome10.3
43complex regional pain syndrome10.3
44polyneuropathy10.3
45retinal degeneration10.3
46retinitis10.3
47vaginitis10.3
48myotonic dystrophy10.3
49cerebellar degeneration10.3
50cerebello-olivary atrophy10.3

Graphical network of the top 20 diseases related to Machado-Joseph Disease:



Diseases related to machado-joseph disease

Symptoms for Machado-Joseph Disease

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Symptoms by clinical synopsis from OMIM:

109150

Clinical features from OMIM:

109150

HPO human phenotypes related to Machado-Joseph Disease:

(show all 38)
id Description Frequency HPO Source Accession
1 spasticity 62% HP:0001257
2 ataxia 57% HP:0001251
3 external ophthalmoplegia 34% HP:0000544
4 dysarthria 30% HP:0001260
5 dystonia 17% HP:0001332
6 gaze-evoked nystagmus 15% HP:0000640
7 fasciculations 12% HP:0002380
8 parkinsonism 3% HP:0001300
9 autosomal dominant inheritance HP:0000006
10 ptosis HP:0000508
11 proptosis HP:0000520
12 supranuclear ophthalmoplegia HP:0000623
13 dysmetric saccades HP:0000641
14 diplopia HP:0000651
15 dementia HP:0000726
16 impaired horizontal smooth pursuit HP:0001151
17 cerebellar atrophy HP:0001272
18 dysphagia HP:0002015
19 rigidity HP:0002063
20 bradykinesia HP:0002067
21 limb ataxia HP:0002070
22 progressive cerebellar ataxia HP:0002073
23 truncal ataxia HP:0002078
24 gliosis HP:0002171
25 postural instability HP:0002172
26 dilated fourth ventricle HP:0002198
27 dysautonomia HP:0002459
28 impaired vibratory sensation HP:0002495
29 spinocerebellar tract degeneration HP:0002503
30 urinary bladder sphincter dysfunction HP:0002839
31 muscle cramps HP:0003394
32 absent achilles reflex HP:0003438
33 babinski sign HP:0003487
34 progressive disorder HP:0003676
35 distal amyotrophy HP:0003693
36 genetic anticipation HP:0003743
37 facial-lingual fasciculations HP:0007089
38 chronic pain HP:0012532

Drugs & Therapeutics for Machado-Joseph Disease

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Drug clinical trials:

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Search NIH Clinical Center for Machado-Joseph Disease

Genetic Tests for Machado-Joseph Disease

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Genetic tests related to Machado-Joseph Disease:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 320 ATXN3
2 Azorean Disease22

Anatomical Context for Machado-Joseph Disease

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MalaCards organs/tissues related to Machado-Joseph Disease:

32
Eye, Tongue, Brain, Testes, Cortex, Cerebellum, Heart, Globus pallidus, Spinal cord, Skeletal muscle, Thalamus

Animal Models for Machado-Joseph Disease or affiliated genes

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MGI Mouse Phenotypes related to Machado-Joseph Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.1ATN1, HTR1A, TBP, ATXN3
2MP:00053868.0ATXN3, SLC6A3, HTR1A, ATN1, ATXN7
3MP:00036317.7ATXN3, SLC6A3, HTR1A, ATN1, ATXN7
4MP:00107687.5TBP, HTR1A, ATN1, ATXN7, SLC6A3

Publications for Machado-Joseph Disease

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Articles related to Machado-Joseph Disease:

(show top 50)    (show all 332)
idTitleAuthorsYear
1
Calpain inhibition reduces ataxin-3 cleavage alleviating neuropathology and motor impairments in mouse models of Machado-Joseph disease. (24817574)
2014
2
Spinal Cord Damage in Machado-Joseph Disease. (25370748)
2014
3
Neurophysiological studies and non-motor symptoms prior to ataxia in a patient with machado-joseph disease: trying to understand the natural history of brain degeneration. (24604677)
2014
4
Nonmotor and extracerebellar features in Machado-Joseph disease: a review. (23775899)
2013
5
Machado-Joseph disease and other rare spinocerebellar ataxias. (22411243)
2012
6
Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease. (23181052)
2012
7
The Machado-Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis. (21317884)
2011
8
Homozygous Machado Joseph Disease: a case report and review of literature. (20724264)
2010
9
Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3? (20308049)
2010
10
Involvement of Onuf's nucleus in Machado-Joseph disease: a morphometric and immunohistochemical study. (20503052)
2010
11
Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease. (21225141)
2010
12
Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products. (20510362)
2010
13
Spectral analysis of heart rate variability in patients with Machado-Joseph disease. (20060786)
2010
14
Prospective study of peripheral neuropathy in Machado-Joseph disease. (19802879)
2009
15
Machado-Joseph disease presenting as motor neuron disease. (17963092)
2008
16
Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. (17234717)
2007
17
Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. (17167246)
2007
18
Linear T2 hyperintensity along the medial margin of the globus pallidus in patients with Machado-Joseph disease and Parkinson disease, and in healthy subjects. (17898197)
2007
19
Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. (16630162)
2006
20
Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients. (15774449)
2005
21
Ectoine alters subcellular localization of inclusions and reduces apoptotic cell death induced by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. (16137577)
2005
22
Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal). (15692194)
2004
23
Early vestibular dysfunction in Machado-Joseph disease detected by caloric test. (15178224)
2004
24
Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment. (12615652)
2003
25
Magnetic resonance imaging findings of Machado-Joseph disease: histopathologic correlation. (12703019)
2003
26
Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease. (11952922)
2002
27
Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3). (12465081)
2002
28
Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (12042281)
2002
29
Machado-Joseph disease with retinal degeneration and dementia. (11903098)
2001
30
A non-radioactive polymerase chain reaction method for diagnosis of Machado-Joseph disease. (10575843)
1999
31
Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. (10196697)
1999
32
Cluster of Machado-Joseph disease in a small rural town near Nagasaki City, Japan: clinical and genetic studies of two families. (10399876)
1999
33
Machado-Joseph disease, spinopontine atrophy, and SCA3. (9109924)
1997
34
CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification. (9415538)
1997
35
A case of Machado-Joseph disease presenting with spastic paraparesis. (9153623)
1997
36
Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan. (9254842)
1997
37
Positron emission tomography (PET) in Machado-Joseph disease. (9073030)
1997
38
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. (8817326)
1996
39
Quantitative study of intermediolateral column cell counts in Machado-Joseph disease. (8994118)
1996
40
Severe and prolonged dysphagia complicating botulinum toxin A injections for dystonia in Machado-Joseph disease. (8618703)
1996
41
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus. (8684388)
1996
42
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. (8882886)
1996
43
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. (8926495)
1996
44
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. (7825583)
1995
45
Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. (7959745)
1994
46
Machado-Joseph disease: an autosomal dominant motor system degeneration. (1620135)
1992
47
Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. (1620136)
1992
48
DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus. (2525613)
1989
49
Machado-Joseph disease: the vestibular presentation. (3487657)
1986
50
Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family. (7189034)
1980

Variations for Machado-Joseph Disease

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Expression for genes affiliated with Machado-Joseph Disease

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Expression patterns in normal tissues for genes affiliated with Machado-Joseph Disease

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Pathways for genes affiliated with Machado-Joseph Disease

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Compounds for genes affiliated with Machado-Joseph Disease

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Compounds related to Machado-Joseph Disease according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1p-chloroamphetamine449.7SLC6A3, HTR1A
2carbon-11449.7SLC6A3, HTR1A
3milnacipran44 50 1111.7HTR1A, SLC6A3
4raclopride44 2810.7SLC6A3, HTR1A
5mdma449.7SLC6A3, HTR1A
6piperazine44 1110.7HTR1A, SLC6A3
7trimipramine44 50 1111.7SLC6A3, HTR1A
8nefazodone44 50 1111.7HTR1A, SLC6A3
9maoa449.7SLC6A3, HTR1A
10escitalopram44 50 24 1112.7SLC6A3, HTR1A
11pramipexole44 28 50 1112.7HTR1A, SLC6A3
12sertraline44 28 50 24 1113.7SLC6A3, HTR1A
13phencyclidine44 28 1111.7SLC6A3, HTR1A
14fluvoxamine44 50 1111.7SLC6A3, HTR1A
15clomipramine44 50 1111.7HTR1A, SLC6A3
16venlafaxine44 50 24 1112.7HTR1A, SLC6A3
17nortriptyline50 44 28 1112.6SLC6A3, HTR1A
18paroxetine44 50 28 1112.6HTR1A, SLC6A3
19apomorphine28 44 1111.6HTR1A, SLC6A3
20amitriptyline44 28 50 1112.6SLC6A3, HTR1A
21quetiapine44 50 28 24 1113.6SLC6A3, HTR1A
22desipramine44 50 1111.6HTR1A, SLC6A3
23bromocriptine44 28 1111.6HTR1A, SLC6A3
24risperidone44 50 28 61 24 1114.5SLC6A3, HTR1A
25fluoxetine44 50 28 1112.5HTR1A, SLC6A3
26citalopram44 50 24 1112.5SLC6A3, HTR1A
27imipramine44 28 50 24 1113.4SLC6A3, HTR1A
28olanzapine44 50 28 24 1113.4HTR1A, SLC6A3
29levodopa44 1110.3SLC6A3, HTR1A
305-hydroxytryptamine449.3SLC6A3, HTR1A
31clozapine44 28 50 1112.2SLC6A3, HTR1A
32polyacrylamide449.1TBP, ATXN7, ATXN3
33haloperidol44 50 28 2 1113.0SLC6A3, HTR1A
34glutamine448.7TBP, ATN1, ATXN7, ATXN3
35cysteine448.6ATXN3, ATN1, TBP, SLC6A3

GO Terms for genes affiliated with Machado-Joseph Disease

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Cellular components related to Machado-Joseph Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:0163638.8ATN1, ATXN7, ATXN3
2cytoplasmGO:0057377.8SLC6A3, TBP, ATN1, ATXN7, ATXN3

Biological processes related to Machado-Joseph Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule cytoskeleton organizationGO:0002269.3ATXN3, ATXN7
2regulation of dopamine metabolic processGO:0420539.2SLC6A3, HTR1A
3transcription, DNA-templatedGO:0063518.7ATN1, ATXN7, ATXN3L, ATXN3
4cell deathGO:0082198.2SLC6A3, TBP, ATXN7, ATXN3

Molecular functions related to Machado-Joseph Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-specific protease activityGO:0048439.7ATXN3L, ATXN3
2omega peptidase activityGO:0082429.6ATXN3L, ATXN3
3protein bindingGO:0055156.9ATXN3, ATXN7, ATN1, HTR1A, TBP, SLC6A3

Products for genes affiliated with Machado-Joseph Disease

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Sources for Machado-Joseph Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet