{"orpha":206580,"name":"Autosomal recessive lower motor neuron disease with childhood onset","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive distal spinal muscular atrophy type 4","Distal spinal muscular atrophy type 4","dSMA4"],"definition":"A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206580/","orphanet_url":"https://www.orpha.net/en/disease/detail/206580","names":{"fr":{"name":"Maladie du motoneurone inférieur autosomique récessive de l'enfance","synonyms":["Amyotrophie spinale distale autosomique récessive type 4","Amyotrophie spinale distale type 4","dSMA4"],"definition":"Maladie neuromusculaire génétique rare caractérisée par une faiblesse musculaire proximale avec une atteinte précoce des muscles du pied et de la main après un développement moteur normal dans la petite enfance, une évolution rapide de la maladie conduisant à une tétraplégie aréflexique généralisée avec des contractures, une scoliose sévère, une hyperlordose et une insuffisance respiratoire progressive conduisant à une ventilation assistée. Les fonctions des nerfs crâniens sont normales et l'atrophie de la langue et les fasciculations sont absentes. Des cas d'un phénotype plus doux avec une faiblesse généralisée modérée et une évolution plus lente de la maladie ont été rapportés."},"de":{"name":"Vorderhornerkrankung, autosomal-rezessive, des Kindes","synonyms":["DSMA4","Muskelatrophie, distale spinale, Typ 4"]},"es":{"name":"Enfermedad de la motoneurona inferior autosómica recesiva de la infancia","synonyms":["Atrofia espinal distal autosómica recesiva tipo 4","Atrofia muscular espinal distal tipo 4","DSMA4"],"definition":"Es una enfermedad neuromuscular, genética y poco frecuente, caracterizada por debilidad muscular proximal con afectación temprana de los músculos de pies y manos después del desarrollo motor normal en la primera infancia, seguida de un curso de la enfermedad rápidamente progresivo que conduce a tetraplejia arrefléxica generalizada con contracturas, escoliosis grave, hiperlordosis e insuficiencia respiratoria progresiva que hace necesaria la ventilación asistida. Las funciones de los nervios craneales son normales y la lengua no presenta ni fasciculaciones ni atrofia muscular. Se ha descrito un fenotipo más leve con debilidad generalizada moderada y progresión de la enfermedad más lenta."},"it":{"name":"Malattia dei motoneuroni inferiori autosomica recessiva ad esordio infantile","synonyms":["Atrofia muscolare spinale distale, autosomica recessiva, tipo 4","Atrofia muscolare spinale distale, tipo 4","DSMA4"],"definition":"La malattia dei motoneuroni inferiori autosomica recessiva ad esordio infantile è una malattia neuromuscolare genetica rara, caratterizzata da debolezza dei muscoli prossimali, ed interessamento precoce dei muscoli dei piedi e delle mani, che fa seguito ad uno sviluppo motorio normale nella prima infanzia. La progressione della malattia è rapida e causa tetraplegia areflessica generalizzata associata a contratture, scoliosi grave, iperlordosi e insufficienza respiratoria progressiva che rende necessaria la ventilazione assistita. La funzione dei nervi cranici è normale e non è presente atrofia della lingua né fascicolazioni. Alcuni pazienti presentano un quadro clinico più lieve, caratterizzato da debolezza generalizzata moderata ed una progressione più lenta della malattia."},"nl":{"name":"Autosomaal recessieve lage motorneuronziekte met aanvang in de kindertijd","synonyms":["Autosomaal recessieve distale spinale spieratrofie type 4","DSMA4","Distale spinale spieratrofie type 4"],"definition":"Een zeldzame, genetische, neuromusculaire ziekte, gekarakteriseerd door zwakte van proximale spieren met een vroege betrokkenheid van voet- en handspieren na een normale motorische ontwikkeling in de vroege kindertijd, een snel evoluerend ziekteverloop dat leidt tot gegeneraliseerde areflectorische tetraplegie met contracturen, ernstige scoliose, hyperlordose, en progressieve respiratoire insufficiëntie met nood aan ademhalingsondersteuning tot gevolg. De functies van de hersenzenuwen zijn normaal en atrofie en fasciculaties van de tong zijn afwezig. Er werd ook een milder fenotype gerapporteerd, met een matige gegeneraliseerde zwakte en tragere progressie van de ziekte."},"pt":{"name":"Doença do segundo neurónio motor, autossómica recessiva, com apresentação na infância"},"pl":{"name":"Autosomalna recesywna choroba dolnego neuronu ruchowego o początku w wieku dziecięcym","synonyms":["Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 4","dSMA4","Dystalny rdzeniowy zanik mięśni typu 4"]},"cs":{"name":"Autozomálně recesivní onemocnění dolního motoneuronu s počátkem v dětství","synonyms":["Distální spinální svalová atrofie, typ 4","dSMA4","Autozomálně recesivní distální spinální svalová atrofie, typ 4"]},"uk":{"name":"Аутосомно-рецесивне захворювання нижніх моторних нейронів, що починається в дитячому віці","synonyms":["Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 4","Дистальна спінальна мязова атрофія, тип 4","dSMA4"],"definition":"A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported."},"zh":{"name":"儿童起病常染色体隐性下运动神经元病","synonyms":["常染色体隐性遗传远端脊髓性肌萎缩4型"],"definition":"儿童起病常染色体隐性遗传性下运动神经元疾病是一种罕见的遗传性神经肌肉疾病，其主要临床表现为儿童早期正常运动发育后出现近端肌肉无力，早期累及足部和手部肌肉，病情进展迅速，导致全身无反射性四肢瘫痪伴挛缩，重度脊柱侧凸、前凸和进行性呼吸衰竭而需要辅助通气。颅神经功能正常，舌萎缩和肌束震颤消失。轻症患者表现为中度全身无力，病情发展缓慢。"},"tr":{"name":"Çocukluk çağında başlayan otozomal resesif alt motor nöron hastalığı","synonyms":["dSMA4","Distal spinal kas atrofisi tip 4","Otozomal çekinik distal spinal müsküler atrofi tip 4"]}},"xrefs":[{"source":"OMIM","code":"611067","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":"1852084767"},{"source":"MONDO","code":"0012608","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567023","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970211","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206710,"name":"Generalized bulbospinal muscular atrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PLEKHG5","name":"pleckstrin homology and RhoGEF domain containing G5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17564964[PMID]","hgnc":"29105","ensembl":"ENSG00000171680","omim":"611101","loci":["1p36.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"16728649[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16728649[PMID]"}],"phenotypes":null}