SBMA
MCID: KNN001
MIFTS: 55

Kennedy's Disease (SBMA) malady

Rare diseases, Neuronal diseases, Muscle diseases categories
Download this MalaCard

Summaries for Kennedy's Disease

About this section
Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NINDS:44 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:8 A spinal muscular dystrophy that has material basis in an x-linked recessive mutation of the androgen receptor.

NIH Rare Diseases:43 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:47 313200

Aliases & Classifications for Kennedy's Disease

About this section
Sources:
8Disease Ontology, 65Wikipedia, 44NINDS, 22GTR, 43NIH Rare Diseases, 45Novoseek, 10DISEASES, 62UMLS, 47OMIM, 35MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

kennedy's disease 8 65 44
x-linked spinal and bulbar muscular atrophy 8 43 44
spinobulbar muscular atrophy 8 43 45
kennedy disease 8 43 45
x-linked bulbo-spinal atrophy 8 22
bulbospinal muscular atrophy 43 44
spinal and bulbar muscular atrophy, x-linked 1 62
bulbospinal muscular atrophy, x-linked 65
x-linked spinal-bulbar muscle atrophy 65
spinal and bulbar muscular atrophy 43
x-linked bulbospinal amyotrophy 43
atrophy, muscular, spinobulbar 62
kennedy syndrome 45
kennedys disease 10
sbma 43


External Ids:

Disease Ontology8 DOID:0060161
OMIM47 313200
MeSH35 D055534

Related Diseases for Kennedy's Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

313200

Drugs & Therapeutics for Kennedy's Disease

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Kennedy's Disease

Search NIH Clinical Center for Kennedy's Disease

Genetic Tests for Kennedy's Disease

About this section
Sources:
22GTR
See all sources

Genetic tests related to Kennedy's Disease:

id Genetic test Affiliating Genes
1 Bulbo-Spinal Atrophy X-Linked22

Anatomical Context for Kennedy's Disease

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Kennedy's Disease:

33
Skin, Brain, Spinal cord, Tongue, Breast, Testes

Animal Models for Kennedy's Disease or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Kennedy's Disease:

37
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

About this section
Sources:
52PubMed
See all sources

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

About this section

Expression for genes affiliated with Kennedy's Disease

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 53QIAGEN
See all sources

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 networks38
9.6AR, SOD1
2
Show member pathways
9.2AR, CASP3
3
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.2AR, CASP3
49.2AR, CASP3
59.2AR, CASP3
69.2SOD1, CASP3
7
Show member pathways
Amyotrophic lateral sclerosis (ALS)38
9.2CASP3, SOD1
8
Show member pathways
8.6CASP3, CS, SOD1

Compounds for genes affiliated with Kennedy's Disease

About this section
Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 24HMDB, 3BitterDB, 51PharmGKB
See all sources

Compounds related to Kennedy's Disease according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1nsc344510.0SOD1, AR
2procymidone4510.0AR, LYVE1
3linuron4510.0LYVE1, AR
4polyglycine4510.0LYVE1, AR
5mibolerone45 2911.0AR, LYVE1
6r18814510.0LYVE1, AR
7hydroxyflutamide45 2911.0AR, LYVE1
8cyproteroneacetate459.9LYVE1, AR
9flutamide45 61 1111.9LYVE1, AR
10steroidal459.9LYVE1, AR
11bicalutamide45 61 1111.9AR, LYVE1
12androstenedione45 2410.8LYVE1, AR
13ubiquinone459.8SOD1, CS
14manganese superoxide459.7CS, SOD1
15peroxynitrite459.7SOD1, CS
16glucose 6-phosphate45 2410.7CS, SOD1
17trolox459.6CASP3, SOD1
18indole-3-carbinol459.6CASP3, AR
19gsno459.6CASP3, SOD1
20s-nitroso-n-acetylpenicillamine459.6CASP3, SOD1
216-hydroxydopamine459.5SOD1, CASP3
22diphenyleneiodonium459.5CASP3, SOD1
23lactacystin459.5CASP3, AR
24pdtc459.5CASP3, SOD1
25levodopa45 1110.4AR, SOD1, CS
26adriamycin459.4CASP3, SOD1
27ascorbic acid45 2410.4CS, SOD1, AR
28troglitazone45 29 61 1112.4AR, CASP3
29adenine45 24 1111.3CS, AR
30chloramphenicol45 3 51 1112.3AR, LYVE1, CS
31docetaxel45 51 61 1112.3AR, CASP3
32glutamine459.3AR, CS, LYVE1
33mg 13245 6110.2CASP3, AR
34dihydrotestosterone45 29 24 1112.2LYVE1, AR
35resveratrol45 61 24 1112.2CASP3, SOD1, AR
36quercetin45 61 24 1112.2CASP3, SOD1, AR
37egcg459.2SOD1, CASP3
38n acetylcysteine459.2AR, SOD1, CASP3
39glutamate459.2CS, AR, SOD1
40h2o2459.1AR, SOD1, CASP3
41alanine459.0CS, LYVE1, SOD1
42rotenone459.0CASP3, CS, SOD1
434-hydroxynonenal45 2410.0CASP3, CS, SOD1
44vegf458.9LYVE1, AR, CASP3
45lactate458.9CASP3, CS, SOD1
46superoxide45 249.9CASP3, CS, SOD1
47arginine458.9SOD1, AR, CS, LYVE1

GO Terms for genes affiliated with Kennedy's Disease

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kennedy's Disease

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet