{"orpha":139518,"name":"Distal hereditary motor neuropathy type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant distal juvenile spinal muscular atrophy type 1","dHMN1"],"definition":"Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139518/","orphanet_url":"https://www.orpha.net/en/disease/detail/139518","names":{"fr":{"name":"Neuropathie motrice distale héréditaire type 1","synonyms":["Atrophie musculaire spinale distale juvénile autosomique dominante type 1","dHMN1"],"definition":"Maladie neuromusculaire rare caractérisée par une faiblesse et une atrophie musculaires lentement progressives des membres inférieurs, sans déficience sensorielle. Par ailleurs, des pieds creux, un orteil en marteau et une augmentation du tonus musculaire peuvent faire partie du tableau clinique."},"de":{"name":"Neuropathie, distale hereditäre motorische, Typ 1","synonyms":["Spinale Muskelatrophie, distale, juvenile, autosomal-dominante, Typ 1","dHMN1"]},"es":{"name":"Neuropatía motora distal hereditaria tipo 1","synonyms":["Atrofia muscular espinal distal juvenil autosómica dominante tipo 1","dHMN1"],"definition":"La neuropatía motora distal hereditaria tipo 1, es una enfermedad neuromuscular poco frecuente, caracterizada por debilidad y atrofia muscular lentamente progresiva, sin deterioro sensitivo. Otras características clínicas adicionales pueden incluir pie cavo, dedos en martillo e incremento del tono muscular."},"it":{"name":"Neuropatia motoria ereditaria distale, tipo 1","synonyms":["Atrofia muscolare spinale distale giovanile, autosomica dominante, tipo 1","dHMN1"],"definition":"La neuropatia motoria ereditaria distale tipo 1 è una malattia neuromuscolare rara, caratterizzata da debolezza ed atrofia dei muscoli degli arti inferiori a progressione lenta, in assenza di deficit sensoriali. Altri segni clinici sono il piede cavo, le dita dei piedi a martello e l'aumento del tono muscolare."},"nl":{"name":"Distale hereditaire motorische neuropathie type 1","synonyms":["Autosomaal dominante distale juveniele spinale spieratrofie type 1","dHMN1"],"definition":"Distale erfelijke motorische neuropathie type 1 is een zeldzame neuromusculaire ziekte die gekarakteriseerd wordt door traag progressieve musculaire zwakte en atrofie van de onderste ledematen, zonder zintuiglijke stoornis. Mogelijke bijkomende klinische kenmerken zijn onder meer pes cavus, hamerteen en verhoogde spiertonus."},"pt":{"name":"Neuropatia, motora, distal, hereditária, tipo 1"},"pl":{"name":"Dystalna dziedziczna neuropatia ruchowa typu 1","synonyms":["Autosomalny dominujący dystalny młodzieńczy rdzeniowy zanik mięśni typu 1","dHMN1"],"definition":"*Dystalna dziedziczna neuropatia ruchowa typu 1 jest rzadką chorobą nerwowo-mięśniową, która charakteryzuje się powoli postępującym osłabieniem i zanikiem mięśni kończyn dolnych, bez zaburzeń czucia. Dodatkowe cechy kliniczne mogą obejmować stopę wydrążoną, młotkowate paluchy i zwiększone napięcie mięśniowe."},"cs":{"name":"Distální hereditární motorická neuropatie, typ 1","synonyms":["dHMN1","Autozomálně dominantní distální juvenilní spinální svalová atrofie, typ 1"]},"uk":{"name":"Дистальна спадкова моторна нейропатія, тип 1","synonyms":["Аутосомно-домінантна дистальна юнацька спінальна мязова атрофія, тип 1","dHMN1"],"definition":"Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone."},"zh":{"name":"远端型遗传性运动神经病1型","synonyms":["常染色体显性遗传远端脊髓性肌萎缩1型"],"definition":"遗传性远端运动神经病1型是一种罕见的神经肌肉疾病，其特征是缓慢进行下肢肌无力和萎缩，无感觉障碍。其他临床特征可能包括高弓足、槌状脚指和肌张力增加。"},"tr":{"name":"Distal kalıtsal motor nöropati tip 1","synonyms":["dHMN1","Otozomal dominant distal jüvenil spinal kas atrofisi tip 1"]}},"xrefs":[{"source":"OMIM","code":"182960","qualifier":"E","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":"1049436513"},{"source":"MONDO","code":"0008451","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566675","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866784","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":null}