{"orpha":139557,"name":"X-linked distal spinal muscular atrophy type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATP7A-related distal motor neuropathy","DSMAX","SMAX3","X-linked dHMN3","X-linked dSMA3","X-linked distal hereditary motor neuropathy type 3"],"definition":"X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139557/","orphanet_url":"https://www.orpha.net/en/disease/detail/139557","names":{"fr":{"name":"Atrophie musculaire spinale distale liée à l'X type 3","synonyms":["Atrophie musculaire spinale distale liée à ATP7A","DSMAX","Neuropathie motrice distale héréditaire liée à l'X de type 3","SMAX3","dHMN3 liée à l'X","dSMA3 liée à l'X"],"definition":"Une neuropathie motrice distale, héréditaire et rare, caractérisée par une atrophie lentement progressive et une faiblesse des muscles distaux des mains et des pieds. Elle est associée à des réflexes tendineux profonds normaux ou une absence de réflexe au niveau des chevilles, et une perte sensorielle minimale ou absente. Une légère faiblesse proximale est parfois rapportée au niveau des jambes et des pieds, ainsi que des déformations au niveau des mains chez les patients masculins."},"de":{"name":"Spinale Muskelatrophie, distale, X-chromosomale, Typ 3","synonyms":["ATP7A-assoziierte distale motorische Neuropathie","DSMAX","Neuropathie, distale hereditäre motorische, X-chromosomale, Typ 3","SMAX3","dHMN, X-chromosomale, Typ 3","dSMA, X-chromosomale, Typ 3"],"definition":"Die X-chromosomale distale spinale Muskelatrophie Typ 3 ist eine seltene distale hereditäre motorische Neuropathie. Sie ist gekennzeichnet durch eine langsam fortschreitende Atrophie und Schwäche der distalen Muskeln von Händen und Füßen mit normalen tiefen Sehnenreflexen oder fehlenden Knöchelreflexen und minimalem (wenn überhaupt) sensorischen Verlust, die gelegentlich mit leichter proximaler Schwäche in den Beinen und Füßen und Handdeformitäten bei Männern einhergeht."},"es":{"name":"Atrofia muscular espinal distal ligada al cromosoma X tipo 3","synonyms":["DSMAX","Neuropatía motora distal asociada a ATP7A","Neuropatía motora distal hereditaria ligada al cromosoma X tipo 3","SMAX3","dHMN3 ligada al cromosoma X","dSMA3 ligada al cromosoma X"],"definition":"La atrofia muscular distal tipo 3 distal ligada al cromosoma X, es una neuropatía motora hereditaria distal poco frecuente caracterizada por atrofia y debilidad de progresión lenta de los músculos de manos y pies, con reflejos tendinosos profundos normales o ausencia de reflejos aquileos y déficit sensitivo mínimo o nulo. En ocasiones, se presenta con leve debilidad proximal en las piernas y pies y malformación de las manos en varones."},"it":{"name":"Atrofia muscolare spinale distale legata all'X tipo 3","synonyms":["Atrofia muscolare spinale distale SMAX3-correlata","Neuropatia motoria ereditaria distale legata all'X, tipo 3","dHMN legata all'X, tipo 3","dSMA legata all'X, tipo 3"],"definition":"L'atrofia muscolare spinale distale legata all'X tipo 3 è una neuropatia motoria distale ereditaria rara, caratterizzata da atrofia e debolezza a progressione lenta dei muscoli distali delle mani e dei piedi, riflessi tendinei profondi normali o assenza dei riflessi delle caviglie e minima perdita sensoriale o addirittura normale funzione sensoriale. I pazienti maschi possono presentare una lieve debolezza prossimale agli arti inferiori e nei piedi e deformità delle mani."},"nl":{"name":"X-gebonden distale spinale spieratrofie type 3","synonyms":["ATP7A-gerelateerde distale motorische neuropathie","DSMAX","SMAX3","X-gebonden dHMN3","X-gebonden dSMA3","X-gebonden distale hereditaire motorische neuropathie type 3"],"definition":"X-gebonden distale spinale musculaire atrofie type 3 is een zeldzame distale hereditaire motorneuropathie die gekarakteriseerd wordt door traag progressieve atrofie en zwakte van distale spieren van handen en voeten, met normale diepe peesreflexen of afwezige enkelreflexen en minimaal of geen zintuiglijk verlies, en soms ook met milde proximale zwakte in de benen en misvormingen van voeten en handen bij mannen."},"pt":{"name":"Atrofia muscular espinhal distal ligada ao X"},"pl":{"name":"Dystalny rdzeniowy zanik mięśni typu 3 sprzężony z chromosomem X","synonyms":["DSMAX","SMAX3","dHMN typu 3 sprzężony z chromosomem X","dSMA typu 3 sprzężony z chromosomem X","Dystalna neuropatia ruchowa zależna od ATP7A","Dystalna dziedziczna neuropatia ruchowa typu 3 sprzężona z chromosomem X"]},"cs":{"name":"X-vázaná distální spinální svalová atrofie, typ 3","synonyms":["SMAX3-vázaná distální spinální svalová atrofie","X-vázaná dHMN, typ 3","X-vázaná dSMA, typ 3","X-vázaná distální hereditární motorická neuropatie, typ 3"]},"uk":{"name":"Х-зчеплена дистальна спінальна мязова атрофія, тип 3","synonyms":["Дистальна моторна нейропатія, повязана з ATP7A","DSMAX","SMAX3","Х-звязаний dHMN3","Х-зчеплена дистальна спадкова моторна нейропатія типу 3","Х-звязаний dSMA3"],"definition":"X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males."},"zh":{"name":"X连锁遗传远端脊髓性肌萎缩症3型","synonyms":["ATP7A基因相关远端运动神经病"],"definition":"X连锁脊髓远端肌萎缩症3型是一种罕见的遗传性远端运动神经病，其特征是缓慢进行性手足远端肌萎缩和无力，伴深部腱反射正常或踝反射缺失，感觉轻微丧失或无丧失，有时在男性中出现腿脚近端轻度无力和手畸形。"},"tr":{"name":"X'e bağlı distal spinal müsküler atrofi tip 3","synonyms":["DSMAX","SMAX3","X'e bağlı dHMN3","X bağlantılı dSMA3","ATP7A-ilişkili distal motor nöropati","X'e bağlı distal kalıtsal motor nöropati tip 3"]}},"xrefs":[{"source":"OMIM","code":"300489","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B61.4","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"10338","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564506","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845359","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":404538,"name":"X-linked distal hereditary motor neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATP7A","name":"ATPase copper transporting alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20170900[PMID]","hgnc":"869","ensembl":"ENSG00000165240","omim":"300011","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"14985388[PMID]_19153371[PMID]_20170900[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14985388[PMID]_19153371[PMID]_20170900[PMID]"}],"phenotypes":null}