{"orpha":481,"name":"Kennedy disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SBMA","SMAX1","X-linked BSMA","X-linked bulbospinal amyotrophy","X-linked bulbospinal muscular atrophy","X-linked spinal and bulbar muscular atrophy"],"definition":"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-481/","orphanet_url":"https://www.orpha.net/en/disease/detail/481","names":{"fr":{"name":"Maladie de Kennedy","synonyms":["SBMA","SMAX1","ASX1","Amyotrophie bulbospinale liée à l'X","Atrophie musculaire spinale et bulbaire liée à l'X","BSMA liée à l'X"],"definition":"La maladie de Kennedy, ou amyotrophie bulbospinale est une maladie rare du motoneurone, récessive liée à l'X, caractérisée par une atrophie musculaire proximale et bulbaire."},"de":{"name":"Kennedy-Krankheit","synonyms":["Muskelatrophie, spinobulbäre, X-chromosomale","SBMA","SMAX1","X-chromosomale BSMA","X-chromosomale bulbo-spinale Muskelatrophie","X-chromosomale spinale und bulbäre Muskelatrophie"],"definition":"Die Kennedy-Krankheit, auch Bulbo-spinale Muskelatrophie (BSMA) genannt, ist eine seltene, X-chromosomal-rezessiv vererbte Motorneuron-Erkrankung und gekennzeichnet durch proximalen und bulbären Muskelschwund."},"es":{"name":"Enfermedad de Kennedy","synonyms":["Amiotrofia bulboespinal ligada al cromosoma X","Atrofia muscular bulbar y espinal ligada al cromosoma X","Atrofia muscular bulboespinal ligada al cromosoma X","Atrofia muscular espinobulbar asociada a SMAX1","SBMA","SBMA ligada al cromosoma X","SMAX1"],"definition":"La enfermedad de Kennedy, también conocida como amioatrofia bulboespinal (BSMA), es una enfermedad rara de la neurona motora, de herencia recesiva ligada al X, caracterizada por una pérdida de masa muscular proximal y bulbar."},"it":{"name":"Malattia di Kennedy","synonyms":["Amiotrofia bulbospinale legata all'X","Atrofia muscolare bulbospinale legata all'X","Atrofia muscolare spinale e bulbare legata all'X","Atrofia muscolare spinobulbare SMAX1-correlata","BSMA legata all'X","SBMA"],"definition":"La malattia di Kennedy, nota anche come atrofia muscolare bulbospinale (BSMA), è una malattia rara dei motoneuroni, trasmessa con modalità recessiva legata all'X, caratterizzata da atrofia dei muscoli bulbari e prossimali."},"nl":{"name":"Ziekte van Kennedy","synonyms":["SBMA","SMAX1","X-gebonden BSMA","X-gebonden bulbospinale amyotrofie","X-gebonden bulbospinale musculaire atrofie","X-gebonden bulbospinale spieratrofie","X-gebonden spinale en bulbaire musculaire atrofie","X-gebonden spinale en bulbaire spieratrofie"],"definition":"De ziekte van Kennedy, ook gekend als bulbospinale musculaire atrofie (BSMA), is een zeldzame X-gebonden recessieve motorneuronziekte gekarakteriseerd door atrofie van proximale en bulbaire spieren."},"pt":{"name":"Doença de Kennedy","synonyms":["Amiotrofia bulboespinhal ligada ao X","Atrofia muscular espinhal e bulbar","SBMA"],"definition":"A doença de Kennedy, também conhecida como atrofia muscular bulbo-espinal (BSMA), é uma doença rara ligada ao X recessiva, do neurónio motor e caracterizada por fraqueza muscular proximal e bulbar."},"pl":{"name":"Choroba Kennedy'ego","synonyms":["BSMA sprzężony z chromosomem X","Opuszkowo-rdzeniowa amiotrofia sprzężona z chromosomem X","Opuszkowo-rdzeniowy zanik mięśni sprzężony z chromosomem X","SBMA","SMAX1","BSMA sprzężona z chromosomem X"],"definition":"Choroba Kennedy’ego, znana również jako opuszkowo-rdzeniowy zanik mięśni, jest rzadką chorobą neuronu ruchowego, która charakteryzuje się zanikiem mięśni proksymalnych i opuszkowych i jest dziedziczona w sposób recesywny sprzężony z chromosomem X."},"cs":{"name":"Kennedyho nemoc","synonyms":["SBMA","SMAX1-vázaná spinobulbární svalová atrofie","X-vázaná BSMA","X-vázaná bulbospinální amyotrofie","X-vázaná bulbospinální muskulární atrofie","X-vázaná spinální a bulbární svalová atrofie"]},"uk":{"name":"Хвороба Кеннеді","synonyms":["SBMA","SMAX1","X-звязаний BSMA","Х-зчеплена бульбоспінальна аміотрофія","Х-зчеплена бульбоспінальна мязова атрофія","Х-зчеплена спінальна та бульбарна мязова атрофія"],"definition":"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting."},"zh":{"name":"肯尼迪病","synonyms":["X连锁脊髓延髓肌萎缩"]},"tr":{"name":"Kennedy hastalığı","synonyms":["SBMA","SMAX1","X'e bağlı BSMA","X'e bağlı bulbospinal amiyotrofi","X'e bağlı bulbospinal kas atrofisi","X'e bağlı omurga ve bulber kas atrofisi"]}},"xrefs":[{"source":"OMIM","code":"313200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B61.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1604214898"},{"source":"MONDO","code":"0010735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839259","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6818","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068600","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206707,"name":"Bulbospinal muscular atrophy of adult","classifications":[156,181]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":399685,"name":"Rare male infertility due to testicular endocrine disorder","classifications":[156,201]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"AR","name":"androgen receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"644","ensembl":"ENSG00000169083","omim":"313700","loci":["Xq12"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Italy","status":"Validated","source":"11949733[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Italy","status":"Validated","source":"11949733[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Italy","status":"Validated","source":"11949733[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.6,"area":"Finland","status":"Validated","source":"9724012[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Europe","status":"Validated","source":"9724012[PMID]_11949733[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000029","label":"Testicular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}