{"orpha":139536,"name":"Distal hereditary motor neuropathy type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal HMN V","Distal hereditary motor neuropathy type V","Distal spinal muscular atrophy type 5","dHMN5"],"definition":"A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139536/","orphanet_url":"https://www.orpha.net/en/disease/detail/139536","names":{"fr":{"name":"Neuropathie motrice distale héréditaire type 5","synonyms":["Amyotrophie spinale distale type 5","Neuropathie motrice distale héréditaire type V","dHMN5"],"definition":"Neuropathie motrice distale héréditaire autosomique dominante rare, caractérisée par une faiblesse et une fonte musculaires affectant principalement les mains, en particulier les muscles thénariens et le premier interosseux dorsal, et/ou une déformation marquée du pied et des troubles de la marche. Les sensations sont normales, bien qu'une faible réponse aux vibrations ait été décrite. La maladie est lentement progressive et se déclare dans les premières décennies de vie."},"de":{"name":"Neuropathie, distale hereditäre motorische, Typ 5","synonyms":["Distale HMNV","Neuropathie, distale hereditäre motorische, Typ V","Spinale Muskelatrophie, distale, Typ 5","dHMN5"],"definition":"Eine autosomal-dominante hereditäre distale motorische Neuropathie, die durch Muskelschwäche und Muskelschwund gekennzeichnet ist und in den ersten Lebensjahrzehnten auftritt. Betroffen sind vor allem die Hände, insbesondere der Thenar- und der erste dorsale Interosseusmuskel. Die Krankheit schreitet langsam voran und betrifft bei den meisten Patienten schließlich auch die unteren Gliedmaßen mit Fußdeformitäten und Gangstörungen. Die Sensibilität ist normal, obwohl eine verminderte Reaktion auf Vibrationen beschrieben wurde."},"es":{"name":"Neuropatía motora distal hereditaria tipo 5","synonyms":["Atrofia muscular espinal distal tipo 5","HMN V distal","Neuropatía motora distal hereditaria tipo V","dHMN5"],"definition":"Es una neuropatía motora distal hereditaria autosómica dominante poco frecuente caracterizada por debilidad muscular y atrofia que afecta predominantemente a las manos, en particular a los músculos tenares e interóseos dorsales, y/o por deformidad marcada del pie con alteración de la marcha. La sensibilidad es normal, aunque se ha descrito una respuesta reducida a la vibración. La enfermedad es lentamente progresiva con una edad de inicio en las primeras décadas de vida."},"it":{"name":"Neuropatia motoria distale ereditaria tipo 5","synonyms":["Atrofia muscolare spinale distale tipo 5","HMN V distale","Neuropatia motoria ereditaria distale tipo V","dHMN5"],"definition":"Si tratta di una neuropatia motoria distale ereditaria rara, a trasmissione autosomica dominante, caratterizzata da debolezza e atrofia muscolare che colpiscono prevalentemente le mani (in particolare i muscoli tenar e il primo interosseo dorsale) e/o da marcata deformità dei piedi e anomalie dell'andatura. La sensibilità è normale, ma la risposta alle vibrazioni può essere ridotta. La malattia ha una progressione lenta ed esordisce nelle prime decadi di vita."},"nl":{"name":"Distale hereditaire motorische neuropathie type 5","synonyms":["Distale spinale musculaire atrofie type 5","Distale spinale spieratrofie type 5","dHMN5","Distale HMN V","Distale erfelijke motorische neuropathie type V"],"definition":"Een zeldzame autosomaal dominante distale hereditaire motorische neuropathie, gekenmerkt door zwakte en atrofie van spier die overwegend handen aantasten, vooral spier van thenar en eerste musculus interosseus dorsalis, en/of aanzienlijke deformiteit van voet en gangstoornis. Sensatie is normaal, hoewel verminderde vibratiezin reeds werd beschreven. De ziekte is traag progressief, en heeft een aanvangsleeftijd in de eerste levensdecennia."},"pt":{"name":"Neuropatia motora distal hereditária tipo 5","synonyms":["Atrofia muscular espinhal distal tipo 5","HMN V distal"],"definition":"Doença neuropática motora hereditária distal autossómica dominante rara caracterizada por fraqueza e atrofia muscular com envolvimento predominante das mãos, em particular os músculos tenar e o primeiro interósseo dorsal, e/ou deformidade acentuada do pé e distúrbio da marcha. A sensibilidade é normal, embora tenha sido descrita uma resposta reduzida à vibração. A doença apresenta uma progressão lenta com idade de início nas primeiras décadas de vida."},"pl":{"name":"Dystalna dziedziczna neuropatia ruchowa typu 5","synonyms":["dHMN5","Dystalna HMN V","Dystalny rdzeniowy zanik mięśni typu 5","Dystalna dziedziczna neuropatia ruchowa typu V"]},"cs":{"name":"Distální hereditární motorická neuropatie, typ 5","synonyms":["Distální spinální svalová atrofie, typ 5","dHMN5"]},"uk":{"name":"Дистальна спадкова моторна нейропатія, тип 5","synonyms":["dHMN5","Дистальна спадкова моторна нейропатія типу V","Дистальний HMN V","Дистальна спінальна мязова атрофія, тип 5"],"definition":"A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life."},"zh":{"name":"远端型遗传性运动神经病5型","synonyms":["远端遗传性运动神经病5型"]},"tr":{"name":"Distal kalıtsal motor nöropati tip 5","synonyms":["dHMN5","Distal HMN V","Distal spinal kas atrofi tip 5","Distal kalıtsal motor nöropati tip V"]}},"xrefs":[{"source":"OMIM","code":"600794","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614751","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619112","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":"731763322"},{"source":"MONDO","code":"0100350","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563443","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833308","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":"BSCL2","name":"BSCL2 lipid droplet biogenesis associated, seipin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14981520[PMID]","hgnc":"15832","ensembl":"ENSG00000168000","omim":"606158","loci":["11q12.3"]},{"symbol":"GARS1","name":"glycyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301420[PMID]_12690580[PMID]","hgnc":"4162","ensembl":"ENSG00000106105","omim":"600287","loci":["7p14.3"]},{"symbol":"REEP1","name":"receptor accessory protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22703882[PMID]","hgnc":"25786","ensembl":"ENSG00000068615","omim":"609139","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-13","source":"22703882[PMID]_8541851[PMID]_16427281[PMID]_15358725[PMID]_18790819[PMID]","terms":[{"hpo":"HP:0003435","label":"Cold-induced hand cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003426","label":"First dorsal interossei muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003392","label":"First dorsal interossei muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003393","label":"Thenar muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003427","label":"Thenar muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040131","label":"Abnormal motor nerve conduction velocity","frequency":"Very rare (<4-1%)","criteria":null}]}}