{"orpha":139552,"name":"Distal hereditary motor neuropathy, Jerash type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive distal spinal muscular atrophy type 2","dHMNJ"],"definition":"A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139552/","orphanet_url":"https://www.orpha.net/en/disease/detail/139552","names":{"fr":{"name":"Neuropathie motrice distale héréditaire type Jerash","synonyms":["Amyotrophie spinale distale autosomique récessive type 2","Atrophie musculaire spinale distale autosomique récessive type 2","dHMNJ"],"definition":"Une maladie génétique neuromusculaire rare caractérisée par une faiblesse et une atrophie musculaires distales, symétriques, progressives, modérées à sévères, sans atteinte sensorielle, affectant tout d'abord les membres inférieurs (vers la fin de la première décennie), puis impliquant les extrémités supérieures (en deux ans). Les patients développent des pieds tombants, des pieds varus, des orteils en marteau et des mains avec des doigts en griffe. Des signes d'atteinte des voies pyramidales (réflexes brusques au niveau des genoux, signe de Babinski positif, réflexes des chevilles absents) sont initialement associés à la maladie, mais ils régressent lorsqu'elle se stabilise (environ dix ans après le début de la maladie)."},"de":{"name":"Neuropathie, distale hereditäre motorische, Typ Jerash","synonyms":["dHMNJ"],"definition":"Eine seltene, genetisch bedingte, neuromuskuläre Erkrankung, die durch fortschreitende, symmetrische, mäßige bis schwere, distale Muskelschwäche und -atrophie ohne sensorische Beteiligung gekennzeichnet ist, die zuerst die unteren Gliedmaßen (gegen Ende des ersten Jahrzehnts) und dann (innerhalb von zwei Jahren) die oberen Extremitäten betrifft. Die Patienten entwickeln typischerweise Fußsenkung, Pes varus, Hammerzehen und Krallenhände. Pyramidenbahnzeichen (wie z. B. lebhafte Kniereflexe und positives Babinski-Zeichen) mit fehlenden Knöchelreflexen sind anfangs assoziiert, bilden sich aber zurück, wenn sich die Krankheit stabilisiert (~10 Jahre nach Beginn)."},"es":{"name":"Neuropatía motora distal hereditaria tipo Jerash","synonyms":["Atrofia muscular espinal distal autosómica recesiva tipo 2","dHMNJ"],"definition":"La neuropatía motora distal hereditaria tipo Jerash es una enfermedad neuromuscular genética poco frecuente, caracterizada por debilidad y atrofia muscular progresiva, simétrica, de moderada a grave, sin afectación sensitiva, afectando primero a las extremidades inferiores (hacia el final de la primera década) y posteriormente a las extremidades superiores (en un plazo de 2 años). Típicamente, los afectados suelen experimentar pie caído, pie varo, dedos en martillo y manos en garra. Inicialmente se asocian signos piramidales (p. ej., reflejos patelares vivos, signo de Babinski) y reflejos aquíleos ausentes, que revierten cuando la enfermedad se estabiliza (~ 10 años después del inicio)."},"it":{"name":"Neuropatia motoria ereditaria distale, tipo Jerash","synonyms":["Atrofia muscolare spinale distale autosomica recessiva, tipo 2","dHMNJ"],"definition":"La neuropatia motoria distale ereditaria tipo Jerash è una malattia neuromuscolare genetica rara, caratterizzata da debolezza e atrofia muscolare distale progressiva, simmetrica, moderata o grave, senza interessamento sensoriale, che colpisce dapprima gli arti inferiori (verso la fine della prima decade di vita) e successivamente quelli superiori (entro circa due anni). Di solito, i pazienti presentano piedi cadenti, piede varo, dita dei piedi a martello e mani ad artiglio. Inizialmente, i pazienti mostrano segni piramidali (velocizzazione dei riflessi del ginocchio, positività del segno di Babinski, assenza di riflessi alle caviglie), che regrediscono con la stabilizzazione della malattia (circa 10 anni dopo l'esordio)."},"nl":{"name":"Distale hereditaire motorische neuropathie, Jerash-type","synonyms":["Autosomaal recessieve distale spinale spieratrofie type 2","dHMNJ"],"definition":"Distale erfelijke motorische neuropathie, Jerash-type is een zeldzame, genetische neuromusculaire aandoening, gekarakteriseerd door progressieve, symmetrische, matige tot ernstige, distale spierzwakte en -atrofie, zonder zintuiglijke betrokkenheid, die eerst de onderste ledematen treffen (tegen het einde van het eerste levensdecennium) en vervolgens (binnen twee jaar) de bovenste ledematen. Patiënten ontwikkelen doorgaans klapvoet, klompvoet, hamertenen en klauwhanden. Tekenen van het piramidaal systeem (e.g. snelle kniereflexen, positief teken van Babinski, afwezige enkelreflexen) zijn initieel geassocieerd maar verminderen naarmate de ziekte stabiliseert (ongeveer 10 jaar na aanvang)."},"pt":{"name":"Neuropatia, motora, distal, hereditária, tipo Jerash"},"pl":{"name":"Dystalna dziedziczna neuropatia ruchowa, typ Dżarasz","synonyms":["Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 2","dHMNJ"]},"cs":{"name":"Distální hereditární motorická neuropatie, Jerash typ","synonyms":["dHMNJ","Autozomálně recesivní distální spinální svalová atrofie, typ 2"]},"uk":{"name":"Дистальна спадкова моторна нейропатія, тип Джераша","synonyms":["Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 2","dHMNJ"],"definition":"A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset)."},"zh":{"name":"Jerash型远端型遗传性运动神经病","synonyms":["常染色体隐性遗传远端脊髓性肌萎缩症2型"],"definition":"一种罕见的遗传性神经肌肉疾病，其特征是进行性、对称性、中重度、远端肌无力和萎缩，无感觉受累，首先下肢受累（十岁前），随后（两年内）累及上肢。患者通常会出现足下垂、内翻足、锤状趾和爪形手。最初表现为锥体束征（如快速膝反射和巴宾斯基征阳性）且无踝反射，但随病情稳定而消退（约起病10年后）。"},"tr":{"name":"Distal kalıtsal motor nöropati, Jerash tipi","synonyms":["dHMNJ","Otozomal çekinik distal spinal kas atrofisi tip 2"]}},"xrefs":[{"source":"OMIM","code":"605726","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":"578991299"},{"source":"MONDO","code":"0011585","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535715","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854023","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10133","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":"SIGMAR1","name":"sigma non-opioid intracellular receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26078401[PMID]","hgnc":"8157","ensembl":"ENSG00000147955","omim":"601978","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"11117544[PMID]_26078401[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11117544[PMID]_26078401[PMID]"}],"phenotypes":null}