KD
MCID: KNN001
MIFTS: 59

Kennedy's Disease (KD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Kennedy's Disease

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NINDS:43 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 based summary: Kennedy's Disease, also known as x-linked spinal and bulbar muscular atrophy, is related to prostate cancer and breast cancer. 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 brain, spinal cord and breast, and related mouse phenotypes are muscle and skeleton.

Disease Ontology:8 A spinal muscular dystrophy that has material basis in an x-linked recessive expansion of cag triplet repeats (glutamine) in exon 1 of ar gene encoding the androgen receptor.

Genetics Home Reference:21 Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).

NIH Rare Diseases:42 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:46 313200

GeneReviews summary for kennedy

Aliases & Classifications for Kennedy's Disease

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Kennedy's Disease, Aliases & Descriptions:

Name: Kennedy's Disease 8 65 19 21 43
X-Linked Spinal and Bulbar Muscular Atrophy 8 42 21 43
Spinal and Bulbar Muscular Atrophy 19 42 20 21
Kennedy Disease 8 42 21 44
Sbma 8 19 42 21
Spinobulbar Muscular Atrophy 8 42 44
Bulbospinal Muscular Atrophy 42 43 62
Bulbospinal Muscular Atrophy, X-Linked 65 21
X-Linked Bulbo-Spinal Atrophy 8 22
Kd 21 62
Spinal and Bulbar Muscular Atrophy, X-Linked 1 62
 
Kennedy Spinal and Bulbar Muscular Atrophy 21
X-Linked Spinalbulbar Muscular Atrophy 19
X-Linked Spinal-Bulbar Muscle Atrophy 65
X-Linked Bulbospinal Amyotrophy 42
Spinal-Bulbar Muscular Atrophy 65
Atrophy, Muscular, Spinobulbar 62
Spinal Bulbar Muscular Atrophy 8
Bulbospinal Neuronopathy 62
Kennedy Syndrome 44
Kennedys Disease 10


Classifications:

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


External Ids:

Disease Ontology8 DOID:0060161
OMIM46 313200
MeSH34 D055534

Related Diseases for Kennedy's Disease

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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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Clinical features from OMIM:

313200

Drugs & Therapeutics for Kennedy's Disease

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Drug clinical trials:

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Search NIH Clinical Center for Kennedy's Disease

Genetic Tests for Kennedy's Disease

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Genetic tests related to Kennedy's Disease:

id Genetic test Affiliating Genes
1 Spinal and Bulbar Muscular Atrophy20 AR
2 Bulbo-Spinal Atrophy X-Linked22

Anatomical Context for Kennedy's Disease

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MalaCards organs/tissues related to Kennedy's Disease:

32
Brain, Spinal cord, Breast, Skin, Tongue, Testes

Animal Models for Kennedy's Disease or affiliated genes

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MGI Mouse Phenotypes related to Kennedy's Disease:

36
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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Articles related to Kennedy's Disease:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Muscle matters in Kennedy's disease. (24742452)
2014
2
The use of sugammadex in a patient with Kennedy's disease under general anesthesia. (25191203)
2014
3
Sleep disorders in spinal and bulbar muscular atrophy (Kennedy's disease): a controlled polysomnographic and self-reported questionnaires study. (24590405)
2014
4
Structural changes of central white matter tracts in Kennedy's disease - a diffusion tensor imaging and voxel-based morphometry study. (23216624)
2013
5
Cerebral involvement in spinal and bulbar muscular atrophy (Kennedy's disease): a pilot study of PET. (24120273)
2013
6
Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease. (24200287)
2013
7
Role of androgen receptor polyQ chain elongation in Kennedy's disease and use of natural osmolytes as potential therapeutic targets. (23024039)
2012
8
Kennedy's disease: clinical significance of tandem repeats in the androgen receptor. (23560310)
2012
9
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. (22919202)
2012
10
Perspectives of Kennedy's disease. (20846673)
2010
11
Case series: anesthetic management of patients with spinal and bulbar muscular atrophy (Kennedy's disease). (19247761)
2009
12
Are cognitive and behavioural deficits a part of the clinical picture in Kennedy's disease? A case study. (19343581)
2009
13
Bulbar and spinal muscular atrophy (Kennedy's disease): a review. (19405197)
2009
14
Kennedy's disease and postoperative complications. (19478672)
2009
15
Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy's disease). (18446311)
2008
16
Kennedy's disease: a lower motor neuron model to identify upper motor neuron physiology in ALS. (18308629)
2008
17
Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease). (17691102)
2007
18
Multimodal evoked potentials of Kennedy's disease. (17803031)
2007
19
Chapter 8 Spinobulbar muscular atrophy (Kennedy's disease). (18808893)
2007
20
Dementia of frontal lobe type in Kennedy's disease. (16319030)
2005
21
X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report. (15830083)
2005
22
Phenotypic variability in Kennedy's disease: implication of the early diagnostic features. (15932358)
2005
23
Use of epidural anaesthesia for surgery in a patient with Kennedy's disease. (14742338)
2004
24
Clinical and electrophysiological features in Chinese patients with Kennedy's disease. (15297006)
2004
25
Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease. (14999487)
2004
26
Bulbospinal muscular atrophy: Kennedy's disease. (15313856)
2004
27
Kennedy's disease. Phosphorylation of the polyglutamine-expanded form of androgen receptor regulates its cleavage by caspase-3 and enhances cell death. (12824190)
2003
28
Fatigue and abnormal neuromuscular transmission in Kennedy's disease. (12548535)
2003
29
Kennedy's Disease Initially Manifesting as an Endocrine Disorder. (19078709)
2003
30
Kennedy's disease. (12777661)
2003
31
Jaw drop in Kennedy's disease. (12427914)
2002
32
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. (12161529)
2002
33
Kennedy's disease: a triplet repeat disorder or a motor neuron disease? (11719252)
2001
34
Dopaminergic pathways involvement in Kennedy's disease: neurophysiological and. (11569904)
2001
35
Complex fasciculations and their origin in amyotrophic lateral sclerosis and Kennedy's disease. (11102912)
2000
36
Androgen receptor mutation in Kennedy's disease. (10434308)
1999
37
Assessment of upper and lower motor neurons in Kennedy's disease: implications for corticomotoneuronal PSTH studies. (10086890)
1999
38
Kennedy's disease: unusual molecular pathologic and clinical features. (9674812)
1998
39
High prevalence of Kennedy's disease in Western Finland -- is the syndrome underdiagnosed? (9724012)
1998
40
Molecular analysis of the androgen receptor gene in Kennedy's disease. Report of two families and review of the literature. (9010714)
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
Trinucleotide repeats in neurologic diseases: an hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I. (8190020)
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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Expression patterns in normal tissues for genes affiliated with Kennedy's Disease

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Pathways for genes affiliated with Kennedy's Disease

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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 networks37
9.6AR, SOD1
2
Show member pathways
9.2AR, CASP3
3
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.2AR, CASP3
49.2AR, CASP3
59.2AR, CASP3
69.2SOD1, CASP3
7
Show member pathways
Amyotrophic lateral sclerosis (ALS)37
9.2CASP3, SOD1
8
Show member pathways
8.6CASP3, CS, SOD1

Compounds for genes affiliated with Kennedy's Disease

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

(show all 47)
idCompoundScoreTop Affiliating Genes
1nsc344410.0SOD1, AR
2procymidone4410.0AR, LYVE1
3linuron4410.0AR, LYVE1
4polyglycine4410.0LYVE1, AR
5mibolerone44 2811.0LYVE1, AR
6r18814410.0AR, LYVE1
7hydroxyflutamide44 2811.0AR, LYVE1
8cyproteroneacetate449.9AR, LYVE1
9flutamide44 61 1111.9LYVE1, AR
10bicalutamide44 61 1111.9AR, LYVE1
11steroidal449.9AR, LYVE1
12androstenedione44 2410.8LYVE1, AR
13ubiquinone449.8CS, SOD1
14manganese superoxide449.7CS, SOD1
15peroxynitrite449.7SOD1, CS
16glucose 6-phosphate44 2410.7CS, SOD1
17trolox449.6CASP3, SOD1
18indole-3-carbinol449.6AR, CASP3
19s-nitroso-n-acetylpenicillamine449.6SOD1, CASP3
20gsno449.6SOD1, CASP3
216-hydroxydopamine449.5SOD1, CASP3
22diphenyleneiodonium449.5CASP3, SOD1
23lactacystin449.5AR, CASP3
24pdtc449.5CASP3, SOD1
25levodopa44 1110.4AR, CS, SOD1
26adriamycin449.4CASP3, SOD1
27ascorbic acid44 2410.4SOD1, CS, AR
28troglitazone44 28 61 1112.4AR, CASP3
29adenine44 24 1111.3AR, CS
30chloramphenicol44 2 50 1112.3LYVE1, CS, AR
31docetaxel44 50 61 1112.3AR, CASP3
32glutamine449.3AR, CS, LYVE1
33mg 13244 6110.2AR, CASP3
34dihydrotestosterone44 28 24 1112.2AR, LYVE1
35resveratrol44 61 24 1112.2SOD1, CASP3, AR
36quercetin44 61 24 1112.2AR, CASP3, SOD1
37egcg449.2SOD1, CASP3
38n acetylcysteine449.2AR, CASP3, SOD1
39glutamate449.2AR, CS, SOD1
40h2o2449.1AR, CASP3, SOD1
41alanine449.0SOD1, LYVE1, CS
42rotenone449.0CASP3, CS, SOD1
434-hydroxynonenal44 2410.0CASP3, CS, SOD1
44vegf448.9LYVE1, CASP3, AR
45lactate448.9SOD1, CS, CASP3
46superoxide44 249.9CASP3, CS, SOD1
47arginine448.9SOD1, LYVE1, CS, AR

GO Terms for genes affiliated with Kennedy's Disease

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