SBMA
MCID: KNN001
MIFTS: 55

Kennedy's Disease (SBMA) malady

Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Kennedy's Disease

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9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 48OMIM, 34MalaCards
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NINDS:45 Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus.

MalaCards: Kennedy's Disease, also known as x-linked spinal and bulbar muscular atrophy, is related to prostate cancer and motor neuron disease. An important gene associated with Kennedy's Disease is AR (androgen receptor), and among its related pathways are FOXA1 transcription factor network and Alpha6-Beta4 Integrin Signaling Pathway. The compounds nsc34 and procymidone have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related mouse phenotypes are muscle and skeleton.

Disease Ontology:9 A spinal muscular dystrophy that has material basis in an x-linked recessive mutation of the androgen receptor.

NIH Rare Diseases:44 Kennedy disease is a gradually progressive neuromuscular disorder chiefly characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat). the condition mainly affects males, with onset between the ages of 30 and 60. early signs and symptoms may include tremor, muscle cramps and muscle twitching, followed by progressive muscle weakness and wasting which may manifest in a variety of ways. affected individuals may also have gynecomastia, testicular atrophy (reduction in size or function), and reduced fertility. it is caused by a mutation in the androgen receptor (ar) gene, in which a dna segment known as a cag triplet repeat is abnormally expanded. it is inherited in an x-linked recessive manner. treatment may include physiotherapy and rehabilitation, medications for tremor and muscle cramps, and hormone therapy or surgical treatment of gynecomastia. last updated: 9/28/2012

Description from OMIM:48 313200

Aliases & Classifications for Kennedy's Disease

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Sources:
9Disease Ontology, 66Wikipedia, 45NINDS, 23GTR, 44NIH Rare Diseases, 46Novoseek, 11DISEASES, 63UMLS, 48OMIM, 36MeSH
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Classifications:

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


Aliases & Descriptions:

kennedy's disease 9 66 45
x-linked spinal and bulbar muscular atrophy 9 44 45
spinobulbar muscular atrophy 9 44 46
kennedy disease 9 44 46
x-linked bulbo-spinal atrophy 9 23
bulbospinal muscular atrophy 44 45
spinal and bulbar muscular atrophy, x-linked 1 63
bulbospinal muscular atrophy, x-linked 66
x-linked spinal-bulbar muscle atrophy 66
spinal and bulbar muscular atrophy 44
x-linked bulbospinal amyotrophy 44
atrophy, muscular, spinobulbar 63
kennedy syndrome 46
kennedys disease 11
sbma 44


External Ids:

Disease Ontology9 DOID:0060161
OMIM48 313200
MeSH36 D055534

Related Diseases for Kennedy's Disease

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Kennedy's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1prostate cancer30.7AR, CASP3, LYVE1
2motor neuron disease30.0AR, SOD1
3diabetes mellitus30.0CS, SOD1, CASP3
4foster-kennedy syndrome10.8
5muscular atrophy10.8
6prostatitis10.5
7meningioma10.5
8tremor10.5
9x-linked spinal-bulbar muscle atrophy10.4
10gynecomastia10.4
11essential tremor10.4
12cerebritis10.4
13myasthenia gravis10.4
14myotonic dystrophy10.4
15spinal muscular atrophy10.4
16myotonic dystrophy type 110.4
17blindness10.4
18spinal-bulbar muscular atrophy10.3
19lateral sclerosis10.3
20neuronitis10.3
21amyotrophic lateral sclerosis10.3
22spinocerebellar ataxia10.3
23ataxia10.3
24autonomic dysfunction10.3
25olfactory groove meningioma10.2
26nasopharyngitis10.2
27arachnoiditis10.2
28optic atrophy10.2
29hemangioma10.1LYVE1
30complete androgen insensitivity syndrome10.0LYVE1, AR
31partial androgen insensitivity syndrome10.0AR, LYVE1
32androgen insensitivity syndrome10.0AR, LYVE1
33retinitis pigmentosa10.0
34adenoma10.0
35anterior ischemic optic neuropathy10.0
36cataract10.0
37neuropathy10.0
38papilledema10.0
39pituitary adenoma10.0
40plasmacytoma10.0
41retinitis10.0
42optic nerve hypoplasia10.0
43juvenile nasopharyngeal angiofibroma10.0
44male infertility10.0SOD1, AR
45machado-joseph disease10.0
46dentatorubral-pallidoluysian atrophy10.0
47huntington's disease10.0AR, CASP3
48breast cancer10.0AR, LYVE1
49neuromuscular disease10.0CS, AR
50alopecia10.0

Graphical network of the top 20 diseases related to Kennedy's Disease:



Diseases related to kennedy's disease

Symptoms for Kennedy's Disease

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48OMIM
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Clinical features from OMIM:

313200

Drugs & Therapeutics for Kennedy's Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Kennedy's Disease

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23GTR
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Genetic tests related to Kennedy's Disease:

id Genetic test Affiliating Genes
1 Bulbo-Spinal Atrophy X-Linked23

Anatomical Context for Kennedy's Disease

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34MalaCards
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MalaCards organs/tissues related to Kennedy's Disease:

34
Skin, Brain, Spinal cord, Tongue, Breast, Testes

Animal Models for Kennedy's Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Kennedy's Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4SOD1, CLCN1, CASP3, AR
2MP:00053908.3AR, CASP3, CLCN1, SOD1
3MP:00053898.3SOD1, CLCN1, CASP3, AR
4MP:00053868.3AR, CASP3, CLCN1, SOD1
5MP:00053778.2CASP3, CS, CLCN1, SOD1
6MP:00053858.2AR, CASP3, LYVE1, SOD1
7MP:00053978.0SOD1, LYVE1, CASP3, AR

Publications for Kennedy's Disease

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53PubMed
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Articles related to Kennedy's Disease:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Structural changes of central white matter tracts in Kennedy's disease - a diffusion tensor imaging and voxel-based morphometry study. (23216624)
2013
2
Cerebral involvement in spinal and bulbar muscular atrophy (Kennedy's disease): a pilot study of PET. (24120273)
2013
3
Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease. (24200287)
2013
4
Role of androgen receptor polyQ chain elongation in Kennedy's disease and use of natural osmolytes as potential therapeutic targets. (23024039)
2012
5
Kennedy's disease: clinical significance of tandem repeats in the androgen receptor. (23560310)
2012
6
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. (22919202)
2012
7
Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease). (21808858)
2011
8
Perspectives of Kennedy's disease. (20846673)
2010
9
Case series: anesthetic management of patients with spinal and bulbar muscular atrophy (Kennedy's disease). (19247761)
2009
10
Are cognitive and behavioural deficits a part of the clinical picture in Kennedy's disease? A case study. (19343581)
2009
11
Bulbar and spinal muscular atrophy (Kennedy's disease): a review. (19405197)
2009
12
Kennedy's disease and postoperative complications. (19478672)
2009
13
Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy's disease). (18446311)
2008
14
Kennedy's disease: a lower motor neuron model to identify upper motor neuron physiology in ALS. (18308629)
2008
15
Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease). (17691102)
2007
16
Multimodal evoked potentials of Kennedy's disease. (17803031)
2007
17
Chapter 8 Spinobulbar muscular atrophy (Kennedy's disease). (18808893)
2007
18
Dementia of frontal lobe type in Kennedy's disease. (16319030)
2005
19
X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report. (15830083)
2005
20
Phenotypic variability in Kennedy's disease: implication of the early diagnostic features. (15932358)
2005
21
Use of epidural anaesthesia for surgery in a patient with Kennedy's disease. (14742338)
2004
22
Clinical and electrophysiological features in Chinese patients with Kennedy's disease. (15297006)
2004
23
Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease. (14999487)
2004
24
Bulbospinal muscular atrophy: Kennedy's disease. (15313856)
2004
25
Kennedy's disease: pathogenesis and clinical approaches. (15151675)
2004
26
Kennedy's disease. Phosphorylation of the polyglutamine-expanded form of androgen receptor regulates its cleavage by caspase-3 and enhances cell death. (12824190)
2003
27
Fatigue and abnormal neuromuscular transmission in Kennedy's disease. (12548535)
2003
28
Kennedy's Disease Initially Manifesting as an Endocrine Disorder. (19078709)
2003
29
Kennedy's disease. (12777661)
2003
30
Jaw drop in Kennedy's disease. (12427914)
2002
31
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. (12161529)
2002
32
Kennedy's disease: a triplet repeat disorder or a motor neuron disease? (11719252)
2001
33
Dopaminergic pathways involvement in Kennedy's disease: neurophysiological and. (11569904)
2001
34
Complex fasciculations and their origin in amyotrophic lateral sclerosis and Kennedy's disease. (11102912)
2000
35
Androgen receptor mutation in Kennedy's disease. (10434308)
1999
36
Assessment of upper and lower motor neurons in Kennedy's disease: implications for corticomotoneuronal PSTH studies. (10086890)
1999
37
Kennedy's disease: unusual molecular pathologic and clinical features. (9674812)
1998
38
High prevalence of Kennedy's disease in Western Finland -- is the syndrome underdiagnosed? (9724012)
1998
39
Molecular analysis of the androgen receptor gene in Kennedy's disease. Report of two families and review of the literature. (9010714)
1997
40
The characteristic electrodiagnostic features of Kennedy's disease. (9052811)
1997
41
CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation. (8737374)
1996
42
Testosterone therapy and the pathogenesis of Kennedy's disease (X-linked bulbospinal muscular atrophy). (8867072)
1996
43
Kennedy's disease: clinical and molecular study of two Italian families. (8749704)
1995
44
CAG repeat length variation in sperm from a patient with Kennedy's disease. (7757084)
1995
45
The expanded trinucleotide repeat in Kennedy's disease. (8624856)
1995
46
Capillary electrophoresis of polymerase chain reaction-amplified products in polymer networks: the case of Kennedy's disease. (7925243)
1994
47
Kennedy's disease: genetic diagnosis of an inherited form of motor neuron disease. (8517843)
1993
48
Kennedy's disease. (8232979)
1993
49
Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. (8469342)
1993
50
Kennedy's disease: clinical presentation and laboratory diagnosis. (7712629)
1993

Variations for Kennedy's Disease

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Expression for genes affiliated with Kennedy's Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kennedy's Disease

Search GEO for disease gene expression data for Kennedy's Disease.

Pathways for genes affiliated with Kennedy's Disease

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 54QIAGEN
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Pathways related to Kennedy's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
FOXA transcription factor networks39
9.6AR, SOD1
2
Show member pathways
9.2AR, CASP3
3
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.2AR, CASP3
49.2AR, CASP3
59.2AR, CASP3
69.2SOD1, CASP3
7
Show member pathways
Amyotrophic lateral sclerosis (ALS)39
9.2CASP3, SOD1
8
Show member pathways
8.6CASP3, CS, SOD1

Compounds for genes affiliated with Kennedy's Disease

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 12DrugBank, 25HMDB, 3BitterDB, 52PharmGKB
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Compounds related to Kennedy's Disease according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1nsc344610.0SOD1, AR
2procymidone4610.0AR, LYVE1
3linuron4610.0LYVE1, AR
4polyglycine4610.0LYVE1, AR
5mibolerone46 3011.0AR, LYVE1
6r18814610.0LYVE1, AR
7hydroxyflutamide46 3011.0AR, LYVE1
8cyproteroneacetate469.9LYVE1, AR
9flutamide46 62 1211.9LYVE1, AR
10steroidal469.9LYVE1, AR
11bicalutamide46 62 1211.9AR, LYVE1
12androstenedione46 2510.8LYVE1, AR
13ubiquinone469.8SOD1, CS
14manganese superoxide469.7CS, SOD1
15peroxynitrite469.7SOD1, CS
16glucose 6-phosphate46 2510.7CS, SOD1
17trolox469.6CASP3, SOD1
18indole-3-carbinol469.6CASP3, AR
19gsno469.6CASP3, SOD1
20s-nitroso-n-acetylpenicillamine469.6CASP3, SOD1
216-hydroxydopamine469.5SOD1, CASP3
22diphenyleneiodonium469.5CASP3, SOD1
23lactacystin469.5CASP3, AR
24pdtc469.5CASP3, SOD1
25levodopa46 1210.4AR, SOD1, CS
26adriamycin469.4CASP3, SOD1
27ascorbic acid46 2510.4CS, SOD1, AR
28troglitazone46 30 62 1212.4AR, CASP3
29adenine46 25 1211.3CS, AR
30chloramphenicol46 3 52 1212.3AR, LYVE1, CS
31docetaxel46 52 62 1212.3AR, CASP3
32glutamine469.3AR, CS, LYVE1
33mg 13246 6210.2CASP3, AR
34dihydrotestosterone46 30 25 1212.2LYVE1, AR
35resveratrol46 62 25 1212.2CASP3, SOD1, AR
36quercetin46 62 25 1212.2CASP3, SOD1, AR
37egcg469.2SOD1, CASP3
38n acetylcysteine469.2AR, SOD1, CASP3
39glutamate469.2CS, AR, SOD1
40h2o2469.1AR, SOD1, CASP3
41alanine469.0CS, LYVE1, SOD1
42rotenone469.0CASP3, CS, SOD1
434-hydroxynonenal46 2510.0CASP3, CS, SOD1
44vegf468.9LYVE1, AR, CASP3
45lactate468.9CASP3, CS, SOD1
46superoxide46 259.9CASP3, CS, SOD1
47arginine468.9SOD1, AR, CS, LYVE1

GO Terms for genes affiliated with Kennedy's Disease

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17Gene Ontology
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Biological processes related to Kennedy's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apoptotic DNA fragmentationGO:0063099.2CASP3, SOD1
2sensory perception of soundGO:0076059.2CASP3, SOD1
3transportGO:0068108.9AR, LYVE1, CLCN1
4response to woundingGO:0096118.8CASP3, LYVE1

Products for genes affiliated with Kennedy's Disease

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Sources for Kennedy's Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet