MCID: SPN053
MIFTS: 38

Spinal and Bulbar Muscular Atrophy of Kennedy malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Immune diseases, Muscle diseases categories

Summaries for Spinal and Bulbar Muscular Atrophy of Kennedy

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NINDS:42 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: Spinal and Bulbar Muscular Atrophy of Kennedy, also known as spinal and bulbar muscular atrophy, is related to foster-kennedy syndrome and muscular atrophy, and has symptoms including gynecomastia, muscular hypotonia and gait disturbance. An important gene associated with Spinal and Bulbar Muscular Atrophy of Kennedy is AR (androgen receptor). Affiliated tissues include brain, spinal cord and breast.

Disease Ontology:9 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.

NIH Rare Diseases:41 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

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).

OMIM:45 Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is... (313200) more...

GeneReviews summary for kennedy

Aliases & Classifications for Spinal and Bulbar Muscular Atrophy of Kennedy

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Spinal and Bulbar Muscular Atrophy of Kennedy, Aliases & Descriptions:

Name: Spinal and Bulbar Muscular Atrophy of Kennedy 45 10
Spinal and Bulbar Muscular Atrophy 63 19 41 20 21 47
Kennedy Disease 9 63 41 21 43 47
Sbma 9 19 41 21 47
X-Linked Spinal and Bulbar Muscular Atrophy 9 41 21 42
Spinobulbar Muscular Atrophy 9 41 43 47
Kennedy's Disease 9 19 21 42
Bulbospinal Muscular Atrophy 41 42 47
Kennedy Spinal and Bulbar Muscular Atrophy 63 21
Bulbospinal Muscular Atrophy, X-Linked 63 21
X-Linked Bulbospinal Amyotrophy 41 47
X-Linked Bulbo-Spinal Atrophy 9 22
 
Kd 63 21
Spinal and Bulbar Muscular Atrophy, X-Linked 1 45
Bulbospinal Muscular Atrophy of Children 41
X-Linked Spinalbulbar Muscular Atrophy 19
X-Linked Spinal-Bulbar Muscle Atrophy 63
Mucocutaneous Lymph Node Syndrome 60
Atrophy, Muscular, Spinobulbar 60
Spinal Bulbar Muscular Atrophy 9
Bulbo-Spinal Atrophy, X-Linked 60
Bulbospinal Neuronopathy 60
Kennedy Syndrome 43
Kennedys Disease 11


Classifications:



Characteristics (Orphanet epidemiological data):

47
spinal and bulbar muscular atrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Italy),1-9/100000 (Italy); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

OMIM45 313200
Disease Ontology9 DOID:0060161
MeSH33 D055534
Orphanet47 481
ICD10 via Orphanet26 G12.2
UMLS via Orphanet61 C0393547, C0752353, C1839259

Related Diseases for Spinal and Bulbar Muscular Atrophy of Kennedy

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Graphical network of the top 20 diseases related to Spinal and Bulbar Muscular Atrophy of Kennedy:



Diseases related to spinal and bulbar muscular atrophy of kennedy

Symptoms for Spinal and Bulbar Muscular Atrophy of Kennedy

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Symptoms by clinical synopsis from OMIM:

313200

Clinical features from OMIM:

313200

Symptoms:

 47 (show all 12)
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • impotence/painful erection/priapism/erection troubles
  • abnormal gait
  • movement disorder
  • hypotonia
  • areflexia/hyporeflexia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • x-linked recessive inheritance
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • insulin-independent/type 2 diabetes
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia

HPO human phenotypes related to Spinal and Bulbar Muscular Atrophy of Kennedy:

(show all 29)
id Description Frequency HPO Source Accession
1 gynecomastia hallmark (90%) HP:0000771
2 muscular hypotonia hallmark (90%) HP:0001252
3 gait disturbance hallmark (90%) HP:0001288
4 reduced tendon reflexes hallmark (90%) HP:0001315
5 neurological speech impairment hallmark (90%) HP:0002167
6 amyotrophy hallmark (90%) HP:0003202
7 erectile abnormalities hallmark (90%) HP:0100639
8 abnormality of the testis occasional (7.5%) HP:0000035
9 abnormality of lipid metabolism occasional (7.5%) HP:0003119
10 type ii diabetes mellitus occasional (7.5%) HP:0005978
11 testicular atrophy HP:0000029
12 decreased fertility HP:0000144
13 abnormality of the mouth HP:0000153
14 sensory neuropathy HP:0000763
15 gynecomastia HP:0000771
16 dysarthria HP:0001260
17 hyporeflexia HP:0001265
18 bulbar palsy HP:0001283
19 tremor HP:0001337
20 x-linked recessive inheritance HP:0001419
21 dysphagia HP:0002015
22 fasciculations HP:0002380
23 elevated serum creatine phosphokinase HP:0003236
24 muscle cramps HP:0003394
25 adult onset HP:0003581
26 slow progression HP:0003677
27 limb muscle weakness HP:0003690
28 calf muscle hypertrophy HP:0008981
29 peripheral neuropathy HP:0009830

Drugs & Therapeutics for Spinal and Bulbar Muscular Atrophy of Kennedy

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Drug clinical trials:

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Genetic Tests for Spinal and Bulbar Muscular Atrophy of Kennedy

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Genetic tests related to Spinal and Bulbar Muscular Atrophy of Kennedy:

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

Anatomical Context for Spinal and Bulbar Muscular Atrophy of Kennedy

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MalaCards organs/tissues related to Spinal and Bulbar Muscular Atrophy of Kennedy:

31
Brain, Spinal cord, Breast, Lymph node, Skin, Tongue, Testis, Testes

Animal Models for Spinal and Bulbar Muscular Atrophy of Kennedy or affiliated genes

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Publications for Spinal and Bulbar Muscular Atrophy of Kennedy

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Variations for Spinal and Bulbar Muscular Atrophy of Kennedy

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Clinvar genetic disease variations for Spinal and Bulbar Muscular Atrophy of Kennedy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ARNM_000044.3(AR): c.172_174CAG(10_36) (p.Gln69_Gln80del)NT expansionPathogenicGRCh37Chr X, 66765160: 66765225

Expression for genes affiliated with Spinal and Bulbar Muscular Atrophy of Kennedy

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Search GEO for disease gene expression data for Spinal and Bulbar Muscular Atrophy of Kennedy.

Pathways for genes affiliated with Spinal and Bulbar Muscular Atrophy of Kennedy

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Compounds for genes affiliated with Spinal and Bulbar Muscular Atrophy of Kennedy

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GO Terms for genes affiliated with Spinal and Bulbar Muscular Atrophy of Kennedy

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Products for genes affiliated with Spinal and Bulbar Muscular Atrophy of Kennedy

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Sources for Spinal and Bulbar Muscular Atrophy of Kennedy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet