{"orpha":139589,"name":"Distal hereditary motor neuropathy type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal spinal muscular atrophy with vocal cord paralysis","dHMN7"],"definition":"A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139589/","orphanet_url":"https://www.orpha.net/en/disease/detail/139589","names":{"fr":{"name":"Neuropathie motrice distale héréditaire type 7","synonyms":["Atrophie musculaire spinale distale avec paralysie des cordes vocales","dHMN7"],"definition":"Neuropathie périphérique génétique rare, lentement progressive, caractérisée par une atrophie et une faiblesse distales affectant les membres supérieurs (avec une prédilection pour l'éminence thénar), puis les membres inférieurs, associées à une parésie uni- ou bilatérale des cordes vocales entraînant une voix rauque et des difficultés respiratoires, ainsi qu'à une faiblesse des muscles faciaux."},"de":{"name":"Neuropathie, distale motorische, hereditäre, Typ 7","synonyms":["Spinale Muskelatrophie, distale, mit Stimmbandlähmung","dHMN7"]},"es":{"name":"Neuropatía motora distal hereditaria tipo 7","synonyms":["Atrofia muscular espinal distal con parálisis en las cuerdas vocales","dHMN7"],"definition":"Es una neuropatía periférica genética, poco frecuente y de progresión lenta, caracterizada por atrofia y debilidad distal que afecta a las extremidades superiores (con predilección por la eminencia tenar) y, posteriormente, a las inferiores. También se asocia a parálisis uni- o bilateral de las cuerdas vocales, lo que conduce a una voz ronca y dificultades respiratorias, así como debilidad facial."},"it":{"name":"Neuropatia motoria ereditaria distale, tipo 7","synonyms":["Atrofia muscolare spinale distale con paralisi delle corde vocali","dHMN7"],"definition":"La neuropatia motoria ereditaria distale tipo 7 è una neuropatia periferica rara a progressione lenta, di origine genetica, caratterizzata da atrofia e debolezza distale che interessano dapprima gli arti superiori (prediligendo l'eminenza tenar) e successivamente quelli inferiori, associata a paresi mono- o bilaterale delle corde vocali, che causa voce roca, difficoltà di respirazione e debolezza facciale."},"nl":{"name":"Distale hereditaire motorische neuropathie type 7","synonyms":["Distale spinale spieratrofie met stembandverlamming","dHMN7"],"definition":"Een zeldzame, traag progressieve, genetische perifere neuropathie, gekarakteriseerd door distale atrofie en zwakte van bovenste ledematen (vooral van spieren van duimmuis) en vervolgens onderste ledematen, geassocieerd met uni- of bilaterale stembandverlamming die leidt tot een hese stem en ademhalingsmoeilijkheden, en met zwakte van aangezichtsspieren."},"pt":{"name":"Neuropatia, motora, distal, hereditária, tipo 7"},"pl":{"name":"Dystalna dziedziczna neuropatia ruchowa typu 7","synonyms":["dHMN7","Dystalny rdzeniowy zanik mięśni z porażeniem strun głosowych"]},"cs":{"name":"Distální hereditární motorická neuropatie, typ 7","synonyms":["dHMN7","Distální spinální svalová atrofie s obrnou hlasivkových vazů"]},"uk":{"name":"Дистальна спадкова моторна нейропатія, тип 7","synonyms":["dHMN7","Дистальна спінальна мязова атрофія з паралічем голосових звязок"],"definition":"A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness."},"zh":{"name":"远端型遗传性运动神经病7型","synonyms":["远端脊髓性肌萎缩伴声带麻痹"],"definition":"一种罕见的缓慢进行性遗传性周围神经病，其特征是远端萎缩和无力，且影响上肢（有鱼际隆起倾向），随后影响下肢，伴单侧或双侧声带轻瘫导致的声音嘶哑、呼吸困难和面部无力。"},"tr":{"name":"Distal kalıtsal motor nöropati tip 7","synonyms":["dHMN7","Vokal kord paralizili distal spinal müsküler atrofi"]}},"xrefs":[{"source":"OMIM","code":"158580","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607641","qualifier":"BTNT","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":"80361835"},{"source":"MONDO","code":"0015355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749653","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140465,"name":"Autosomal dominant distal hereditary motor neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DCTN1","name":"dynactin subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12627231[PMID]","hgnc":"2711","ensembl":"ENSG00000204843","omim":"601143","loci":["2p13.1"]},{"symbol":"SLC5A7","name":"solute carrier family 5 member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23141292[PMID]","hgnc":"14025","ensembl":"ENSG00000115665","omim":"608761","loci":["2q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":null}