Spinal and Bulbar Muscular Atrophy of Kennedy malady
Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Immune diseases, Muscle diseases categories
Aliases & Descriptions for Spinal and Bulbar Muscular Atrophy of Kennedy:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Reproductive diseases, Immune diseases, Muscle diseases
Characteristics (Orphanet epidemiological data):48
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
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: 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: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.
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
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:46 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
Symptoms by clinical synopsis from OMIM:313200
Clinical features from OMIM:313200
Symptoms:48 (show all 12)
HPO human phenotypes related to Spinal and Bulbar Muscular Atrophy of Kennedy:(show all 29)
MalaCards organs/tissues related to Spinal and Bulbar Muscular Atrophy of Kennedy:31
Brain, Spinal cord, Breast, Lymph node, Skin, Tongue, Testis, Testes
Clinvar genetic disease variations for Spinal and Bulbar Muscular Atrophy of Kennedy:5
Search GEO for disease gene expression data for Spinal and Bulbar Muscular Atrophy of Kennedy.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet