{"orpha":139547,"name":"Distal spinal muscular atrophy type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive distal spinal muscular atrophy type 3","Distal hereditary motor neuropathy type 3 and type 4","dHMN3 and dHMN4","dSMA3"],"definition":"Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139547/","orphanet_url":"https://www.orpha.net/en/disease/detail/139547","names":{"fr":{"name":"Amyotrophie spinale distale type 3","synonyms":["Amyotrophie spinale distale autosomique récessive type 3","Atrophie musculaire spinale distale autosomique récessive type 3","Neuropathie motrice distale héréditaire types 3 et 4","dHMN3 et dHMN4","dSMA3"],"definition":"Maladie neuromusculaire rare caractérisée par une faiblesse et une atrophie musculaires progressives affectant principalement les parties distales des membres, et plus tard, les muscles proximaux et du tronc, par une hyperlordose marquée et par un dysfonctionnement diaphragmatique d'apparition tardive."},"de":{"name":"Spinale Muskelatrophie, distale, Typ 3","synonyms":["Autosomal-rezessive distale spinale Muskelatrophie Typ 3","Muskelatrophie, distale spinale, Typ 3","Neuropathie, distale hereditäre motorische, Typ 3 und Typ 4","dHMN3 und dHMN4","dSMA3"]},"es":{"name":"Atrofia muscular espinal distal tipo 3","synonyms":["Atrofia muscular espinal distal autosómica recesiva tipo 3","Neuropatía motora hereditaria distal tipo 3 y tipo 4","dHMN3 y dHMN4","dSMA3"],"definition":"La atrofia muscular espinal distal tipo 3, es una enfermedad neuromuscular poco frecuente caracterizada por debilidad muscular progresiva y atrofia que afecta preferentemente a las partes distales de las extremidades, con afectación posterior de los músculos proximales y del tronco, marcada hiperlordosis y disfunción diafragmática tardía."},"it":{"name":"Atrofia muscolare spinale distale, tipo 3","synonyms":["Atrofia muscolare spinale distale, autosomica recessiva, tipo 3","Neuropatia motoria ereditaria distale, tipi 3 e 4","dHMN3 e dHMN4","dSMA3"],"definition":"L'atrofia muscolare spinale distale tipo 3 è una malattia neuromuscolare rara, caratterizzata da debolezza ed atrofia muscolare progressiva, che interessano prevalentemente la porzione distale degli arti, con un successivo interessamento dei muscoli prossimali e del tronco, in associazione con una marcata iperlordosi e una disfunzione diaframmatica tardiva."},"nl":{"name":"Distale spinale spieratrofie type 3","synonyms":["dSMA3","Autosomaal recessieve distale spinale musculaire atrofie type 3","Autosomaal recessieve distale spinale spieratrofie type 3","Distale erfelijke motorische neuropathie type 3 en type 4","Distale spinale musculaire atrofie type 3","dHMN3 en dHMN4"],"definition":"Distale spinale spieratrofie type 3 is een zeldzame neuromusculaire ziekte, en wordt gekarakteriseerd door progressieve zwakheid en atrofie van spieren, voornamelijk in de distale delen van de ledematen, en later gevolgd door betrokkenheid van proximale spieren en spieren in de romp met uitgesproken hyperlordose en late disfunctie van het diafragma."},"pt":{"name":"Atrofia muscular espinhal distal tipo 3","synonyms":["Neuropatia motora distal hereditária tipo 3 e tipo 4"]},"pl":{"name":"Dystalny rdzeniowy zanik mięśni typu 3","synonyms":["Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 3","dHMN3 and dHMN4","dSMA3","Dystalna dziedziczna neuropatia ruchowa typu 3 i typu 4"]},"cs":{"name":"Distální spinální svalová atrofie, typ 3","synonyms":["Distální hereditární motorická neuropatie, typy 3 a 4","dHMN3 a dHMN4","dSMA3","Autozomálně recesivní distální spinální svalová atrofie, typ 3"]},"uk":{"name":"Дистальна спінальна мязова атрофія, тип 3","synonyms":["Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 3","dHMN3 та dHMN4","Дистальна спадкова моторна нейропатія типу 3 і 4","dSMA3"],"definition":"Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction."},"zh":{"name":"远端脊髓性肌萎缩症3型","synonyms":["常染色体隐性遗传远端脊髓性肌萎缩症3型"],"definition":"脊髓远端肌萎缩症3型是一种罕见的神经肌肉疾病，其特征是进行性肌无力和萎缩，主要影响肢体远端，随后累及近端和躯干肌肉，伴显著脊髓过度前凸和晚期膈肌功能障碍。"},"tr":{"name":"Distal spinal müsküler atrofi tip 3","synonyms":["dSMA3","dHMN3 ve dHMN4","Distal kalıtsal motor nöropati tip 3 ve tip 4","Otozomal çekinik distal spinal kas atrofisi tip 3"]}},"xrefs":[{"source":"OMIM","code":"607088","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":"91814"},{"source":"MONDO","code":"0011771","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564626","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846823","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140468,"name":"Autosomal recessive distal hereditary motor neuropathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"512678[PMID]_12112104[PMID]_15054395[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_512678[PMID]_12112104[PMID]_15054395[PMID]"}],"phenotypes":null}