{"orpha":314485,"name":"Young adult-onset distal hereditary motor neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive distal spinal muscular atrophy type 5","Young adult-onset dHMN","dSMA5"],"definition":"Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314485/","orphanet_url":"https://www.orpha.net/en/disease/detail/314485","names":{"fr":{"name":"Neuropathie motrice distale héréditaire de l'adulte jeune","synonyms":["Amyotrophie spinale distale autosomique récessive type 5","Atrophie musculaire spinale distale autosomique récessive type 5","dHMN de l'adulte jeune","dSMA5"],"definition":"Une neuropathie motrice distale, héréditaire, rare, de transmission autosomique récessive. Elle se caractérise par une faiblesse musculaire lentement progressive, une hypotonie et une atrophie des membres inférieurs, plus prononcées au niveau distal et conduisant à une paralysie, et par une perte des réflexes tendineux. Les signes additionnels peuvent inclure des pieds creux et une légère dysphonie. Les membres supérieurs sont relativement épargnés."},"de":{"name":"Neuropathie, distale kongenitale motorische, des jungen Erwachsenen","synonyms":["Spinale Muskelatrophie, distale, autosomal-rezessive, Typ 5","dHMN des frühen Erwachsenenalters","dSMA5"]},"es":{"name":"Neuropatía motora distal hereditaria de inicio en el adulto joven","synonyms":["Atrofia muscular espinal distal autosómica recesiva tipo 5","dHMN de inicio en el adulto joven","dSMA5"],"definition":"La neuropatía motora distal hereditaria de inicio en el adulto jóven, es una neuropatía motora hereditaria distal autosómica recesiva poco frecuente, caracterizada por debilidad muscular lentamente progresiva, hipotonía y atrofia de las extremidades inferiores, más pronunciada distalmente, lo que produce parálisis y pérdida de los reflejos tendinosos. Otras características adicionales pueden incluir pie cavo y leve disfonía. Los miembros superiores están relativamente preservados."},"it":{"name":"Neuropatia motoria ereditaria distale ad esordio nella prima età adulta","synonyms":["Atrofia muscolare spinale distale, autosomica recessiva, tipo 5","dHMN a esordio nel giovane adulto","dSMA5"],"definition":"La neuropatia motoria ereditaria distale ad esordio nella prima età adulta è una neuropatia motoria distale ereditaria rara a trasmissione autosomica recessiva, caratterizzata da debolezza muscolare a progressione lenta, ipotonia ed atrofia degli arti inferiori, più marcata nella porzione distale, che esita nella paralisi e nella perdita dei riflessi tendinei. Altri segni clinici sono il piede cavo e la lieve disfonia. Gli arti superiori sono relativamente risparmiati."},"nl":{"name":"Distale hereditaire motorische neuropathie met aanvang in de vroege volwassenheid","synonyms":["Autosomaal recessieve distale spinale spieratrofie type 5","dHMN met aanvang in de vroege volwassenheid","dSMA5"],"definition":"Distale erfelijke motorneuropathie met aanvang in de vroege volwassenheid is een zeldzame autosomaal recessieve distale erfelijke motorische neuropathie die gekarakteriseerd wordt door traag progressieve musculaire zwakte, hypotonie en atrofie in de onderste ledematen, die distaal meer uitgesproken zijn en leiden tot verlammingen en verlies van peesreflexen. Mogelijke bijkomende kenmerken zijn onder meer pes cavus en milde dysfonie. De bovenste ledematen blijven relatief gespaard."},"pt":{"name":"Neuropatia motora hereditária distal de ínicio no adulto jovem","synonyms":["Atrofia muscular espinhal distal autossómica recessiva tipo 5"]},"pl":{"name":"Dystalna dziedziczna neuropatia ruchowa o początku u młodych dorosłych","synonyms":["Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 5","dHMN o początku u młodych dorosłych","dSMA5"],"definition":"*Dystalna dziedziczna neuropatia ruchowa o początku u młodych dorosłych jest rzadką dziedziczną dystalną neuropatią ruchową, dziedziczącą się autosomalnie recesywnie, która charakteryzuje się powoli postępującym osłabieniem i obniżeniem napięcia mięśniowego oraz zanikiem mięśni kończyn dolnych, bardziej wyrażonym w odcinkach dystalnych, co prowadzi do niedowładu i zaniku odruchów ścięgnistych. Dodatkowo obserwuje się wydrążenie stóp oraz łagodną dysfonię. Zajęcie kończyn górnych jest stosunkowo łagodne."},"cs":{"name":"Dědičná motorická distální neuropatie s nástupem u mladých dospělých","synonyms":["dSMA5","Autozomálně recesivní distální spinální muskulární atrofie typ 5","DHMN se vznikem u mladých dospělých"]},"uk":{"name":"Дистальна спадкова моторна нейропатія, що починається у молодому віці","synonyms":["Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 5","dSMA5","dHMN у молодих дорослих"],"definition":"Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared."},"zh":{"name":"年轻成人起病遗传性远端运动神经元病","synonyms":["常染色体隐性远端脊髓肌肉萎缩5型"],"definition":"年轻成人发病的远端遗传性运动神经病是一种罕见的常染色体隐性遗传性远端遗传性运动神经病，其特征是缓慢进行性肌无力、张力减退和下肢萎缩，远端更为明显，导致瘫痪，肌腱反射丧失。其他特征可能包括高足弓和轻度发音困难。上肢累及相对较少。"},"tr":{"name":"Genç erişkin başlangıçlı distal kalıtsal motor nöropati","synonyms":["dSMA5","Genç erişkin-başlangıçlı dHMN","Otozomal çekinik distal spinal müsküler atrofi tip 5"]}},"xrefs":[{"source":"OMIM","code":"614881","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619216","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"13947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749918","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":[{"symbol":"DNAJB2","name":"DnaJ heat shock protein family (Hsp40) member B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22522442[PMID]","hgnc":"5228","ensembl":"ENSG00000135924","omim":"604139","loci":["2q35"]},{"symbol":"VWA1","name":"von Willebrand factor A domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33559681[PMID]","hgnc":"30910","ensembl":"ENSG00000179403","omim":"611901","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22522442[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}