{"orpha":139525,"name":"Distal hereditary motor neuropathy type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal spinal muscular atrophy type 2","dHMN2","dSMA2"],"definition":"A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139525/","orphanet_url":"https://www.orpha.net/en/disease/detail/139525","names":{"fr":{"name":"Neuropathie motrice distale héréditaire type 2","synonyms":["Atrophie musculaire spinale distale type 2","dHMN2","dSMA2"],"definition":"Neuropathie motrice distale héréditaire autosomique dominante rare caractérisée par l'apparition d'une faiblesse et d'une atrophie, lentement progressives, des membres distaux entre la deuxième et la cinquième décennie de vie. L'atteinte sensitive est généralement moins prononcée ou absente. La gravité de l'atteinte varie, et les membres supérieurs et inférieurs peuvent être touchés."},"de":{"name":"Neuropathie, distale hereditäre motorische, Typ 2","synonyms":["Spinale Muskelatrophie, distale, Typ 2","dHMN2","dSMA2"],"definition":"Eine autosomal-dominante distale motorische Neuropathie, die durch den Beginn einer langsam fortschreitenden Schwäche und Atrophie der distalen Gliedmaßen zwischen dem zweiten und fünften Lebensjahrzehnt gekennzeichnet ist. Die sensorische Beteiligung ist in der Regel weniger ausgeprägt oder fehlt ganz. Der Schweregrad der Erkrankung ist unterschiedlich, und es können sowohl die unteren als auch die oberen Extremitäten betroffen sein."},"es":{"name":"Neuropatía motora distal hereditaria tipo 2","synonyms":["Atrofia muscular espinal distal tipo 2","dHMN2","dSMA2"],"definition":"Es una neuropatía motora distal dominante autosómica poco frecuente que se caracteriza por la aparición de debilidad y atrofia distal de las extremidades, lentamente progresiva, entre la segunda y la quinta décadas de vida. La afectación sensitiva suele ser menos pronunciada o estar ausente. La gravedad de la enfermedad es variable, y puede afectar tanto a las extremidades inferiores como a las superiores."},"it":{"name":"Neuropatia motoria ereditaria distale, tipo 2","synonyms":["Atrofia muscolare spinale distale, tipo 2","dHMN2","dSMA2"]},"nl":{"name":"Distale erfelijke motorische neuropathie type 2","synonyms":["Distale spinale musculaire atrofie type 2","Distale spinale spieratrofie type 2","dHMN2","dSMA2"],"definition":"Een zeldzame autosomaal dominante distale hereditaire motorische neuropathie, gekenmerkt door aanvang van progressieve zwakte en atrofie van distale ledematen tussen het tweede en vijfde levensdecennium. Sensorische betrokkenheid is doorgaans minder uitgesproken of afwezig. De ernst van de aandoening is variabel, en zowel onderste als bovenste extremiteiten kunnen betrokken zijn."},"pt":{"name":"Neuropatia, motora, distal, hereditária, tipo 2","definition":"Neuropatia motora hereditária distal autossómica dominante rara, caracterizada inicialmente por fraqueza e atrofia lenta e progressiva distal dos membros entre a segunda e a quinta décadas de vida. O envolvimento sensorial é habitualmente menos pronunciado ou ausente. A gravidade da doença é variável e o envolvimento das extremidades inferiores e superiores pode ocorrer."},"pl":{"name":"Dystalna dziedziczna neuropatia ruchowa typu 2","synonyms":["D","dHMN2","dSMA2"],"definition":"Rzadka dystalna neuropatia ruchowa o dziedziczeniu autosomalnym dominującym, która charakteryzuje się powoli postępującym osłabieniem i zanikiem dystalnych mięśni kończyn o początku przypadającym między drugą a piątą dekadą życia. Objawy czuciowe są zwykle mniej wyraźne lub nieobecne. Nasilenie objawów choroby jest zmienne i mogą one dotyczyć zarówno kończyn dolnych, jak i górnych."},"cs":{"name":"Distální hereditární motorická neuropatie, typ 2","synonyms":["Distální spinální svalová atrofie, typ 2","dHMN2","dSMA2"]},"uk":{"name":"Дистальна спадкова моторна нейропатія, тип 2","synonyms":["dHMN2","Дистальна спінальна мязова атрофія 2 типу","dSMA2"],"definition":"A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved."},"zh":{"name":"远端型遗传性运动神经病2型","synonyms":["远端脊髓性肌萎缩症2型"]},"tr":{"name":"Distal kalıtsal motor nöropati tip 2","synonyms":["dHMN2","dSMA2","Distal spinal kas atrofisi tip 2"]}},"xrefs":[{"source":"OMIM","code":"158590","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608634","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613376","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615575","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":"152961055"},{"source":"MONDO","code":"0015352","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":"FBXO38","name":"F-box protein 38","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24207122[PMID]","hgnc":"28844","ensembl":"ENSG00000145868","omim":"608533","loci":["5q32"]},{"symbol":"HSPB1","name":"heat shock protein family B (small) member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15122254[PMID]","hgnc":"5246","ensembl":"ENSG00000106211","omim":"602195","loci":["7q11.23"]},{"symbol":"HSPB3","name":"heat shock protein family B (small) member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20142617[PMID]","hgnc":"5248","ensembl":"ENSG00000169271","omim":"604624","loci":["5q11.2"]},{"symbol":"HSPB8","name":"heat shock protein family B (small) member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15122253[PMID]","hgnc":"30171","ensembl":"ENSG00000152137","omim":"608014","loci":["12q24.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3789668[PMID]_7125978[PMID]_3789668[PMID]_1517763[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3789668[PMID]_7125978[PMID]_3789668[PMID]_1517763[PMID]"}],"phenotypes":null}