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SMAX1
MCID: SPN404
MIFTS: 61
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Spinal and Bulbar Muscular Atrophy, X-Linked 1 (SMAX1)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spinal and Bulbar Muscular Atrophy, X-Linked 1:
Characteristics:Orphanet epidemiological data:58
kennedy disease
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Italy),1-9/100000 (Italy); Age of onset: Adult; Age of death: normal life expectancy; OMIM:56
Miscellaneous:
slow progression prevalence of 1 in 40,000 onset usually between 30 and 50 years of age mild symptoms may occur in teenage years childhood onset has been reported allelic disorder to androgen insensitivity syndrome (ais, )
Inheritance:
x-linked recessive HPO:31
spinal and bulbar muscular atrophy, x-linked 1:
Onset and clinical course adult onset slow progression Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Reproductive diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare infertility disorders External Ids:
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NINDS :
53
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. Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.
MalaCards based summary : Spinal and Bulbar Muscular Atrophy, X-Linked 1, also known as kennedy disease, is related to lateral sclerosis and motor neuron disease, and has symptoms including tremor, muscular fasciculation and muscle cramp. An important gene associated with Spinal and Bulbar Muscular Atrophy, X-Linked 1 is AR (Androgen Receptor), and among its related pathways/superpathways are Akt Signaling and CCR5 Pathway in Macrophages. The drugs Goserelin and Antineoplastic Agents, Hormonal have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and breast, and related phenotypes are muscular hypotonia and gait disturbance Disease Ontology : 12 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 : 25 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). Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile). NIH Rare Diseases : 52 Kennedy disease is a gradually progressive, neuromuscular disorder 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 symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways. Affected people may also have gynecomastia , testicular atrophy (reduction in size or function of the testes ), and reduced fertility as a result of mild androgen insensitivity. Kennedy disease is caused by a mutation in the androgen receptor (AR ) gene and is inherited in an X-linked recessive manner. Treatment may include physiotherapy and rehabilitation; medications to alleviate tremor and muscle cramps; and hormone therapy or surgical treatment for gynecomastia. OMIM : 56 Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; 253300). (313200) KEGG : 36 Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease that only affects males. SBMA is caused by expansion of CAG trinucleotide repeats in the first exon of the androgen receptor gene. The expansion of encoded polyglutamine tracts results in protein aggregation and is associated with neuronal cell death. UniProtKB/Swiss-Prot : 73 Spinal and bulbar muscular atrophy X-linked 1: An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. Wikipedia : 74 Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a progressive... more...
GeneReviews:
NBK1333
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Human phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:58 31 (show all 26)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:313200UMLS symptoms related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:tremor, muscular fasciculation, muscle cramp, facial paresis GenomeRNAi Phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:45
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Drugs for Spinal and Bulbar Muscular Atrophy, X-Linked 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:(show all 14)
Cochrane evidence based reviews: bulbo-spinal atrophy, x-linked |
MalaCards organs/tissues related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:40
Spinal Cord,
Brain,
Breast,
Tongue,
Skin,
Testes,
Skeletal Muscle
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Articles related to Spinal and Bulbar Muscular Atrophy, X-Linked 1:(show top 50) (show all 215)
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Genes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 (1 elite genes):(show all 32) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinal and Bulbar Muscular Atrophy, X-Linked 1:6 (show top 50) (show all 81)
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GEO
for disease gene expression data for Spinal and Bulbar Muscular Atrophy, X-Linked 1.
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Pathways related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:
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Cellular components related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:
Biological processes related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:
Molecular functions related to Spinal and Bulbar Muscular Atrophy, X-Linked 1 according to GeneCards Suite gene sharing:
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