{"orpha":538096,"name":"Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538096/","orphanet_url":"https://www.orpha.net/en/disease/detail/538096","names":{"fr":{"name":"Polyneuropathie sensitivomotrice néonatale létale autosomique récessive","definition":"Neuropathie sensitivomotrice héréditaire axonale autosomique récessive rare, d'origine génétique, caractérisée par une polyneuropathie sensitivomotrice axonale sévère à début prénatal (se traduisant par une diminution des mouvements foetaux et un polyhydramnios), se manifestant, à la naissance, par une insuffisance respiratoire nécessitant une assistance respiratoire, une hypotonie musculaire profonde, une faiblesse rapidement progressive des muscles distaux et une absence de réflexes tendineux profonds, sans contractures, entraînant le décès du nourrisson avant l'âge de 8 mois. L'examen neuropathologique met en évidence une perte conséquente de fibres myélinisées de taille moyenne et grande, sans signe de démyélinisation."},"de":{"name":"Autosomal-rezessive letale neonatale axonale sensorimotorische Polyneuropathie","definition":"Eine seltene autosomal-rezessiv vererbte axonale motorische und sensorische Neuropathie, die durch den pränatalen Beginn einer schweren sensomotorischen axonalen Polyneuropathie gekennzeichnet ist (erkennbar an eingeschränkter fetaler Bewegung und Polyhydramnion). Sie manifestiert sich bei Geburt mit respiratorischer Insuffizienz, die eine mechanische Beatmung erfordert, ausgeprägter Muskelhypotonie, schnell fortschreitender distaler Muskelschwäche und fehlenden tiefen Sehnenreflexen bei fehlenden Kontrakturen. Die Krankheit führt vor dem achten Lebensmonat um Tod. Der neuropathologische Befund zeigt einen schweren Verlust von großen und mittelgroßen myelinisierten Fasern ohne Anzeichen einer Demyelinisierung."},"es":{"name":"Polineuropatía axonal sensitivo-motora neonatal letal autosómica recesiva","definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica recesiva, de origen genético y poco frecuente. Está caracterizada por una grave polineuropatía axonal sensitivo-motora (que se manifiesta como una disminución de los movimientos fetales y polihidramnios) de inicio prenatal y que se presenta al nacimiento con insuficiencia respiratoria que requiere ventilación mecánica, grave hipotonía muscular, debilidad muscular distal rápidamente progresiva y ausencia de reflejos osteotendinosos en ausencia de contracturas, ocasionando el fallecimiento antes de los 8 meses de edad. Los hallazgos neuropatológicos muestran una grave pérdida de las fibras mielinizadas de diámetro grande y mediano sin signos de desmielinización."},"it":{"name":"Polineuropatia assonale sensitivo-motoria neonatale letale autosomica recessiva","definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, di origine genetica, a trasmissione autosomica recessiva, che esordisce in epoca prenatale con polineuropatia sensitivo-motoria assonale grave, che si manifesta con la riduzione dei movimenti del feto e con polidramnios. Alla nascita, i pazienti presentano un'insufficienza respiratoria che richiede la ventilazione meccanica, grave ipotonia muscolare, debolezza muscolare distale a progressione rapida e assenza dei riflessi tendinei profondi, in assenza di contratture. La morte subentra nei primi otto mesi di vita. A livello neuropatologico, si osserva una marcata perdita delle fibre mielinizzate di grandi e medie dimensioni, in assenza di segni di demielinizzazione."},"nl":{"name":"Autosomaal recessieve letale neonatale axonale sensomotorische polyneuropathie","definition":"Een zeldzame, genetische, autosomaal recessieve axonale erfelijke motorische en sensorische neuropathie, die gekarakteriseerd wordt door prenatale aanvang van een ernstige sensorimotorische axonale polyneuropathie (weerspiegeld door verminderde foetale beweging en polyhydramnion), die zich bij de geboorte manifesteert met respiratoire insufficiëntie met nood aan mechanische beademing, ernstige musculaire hypotonie, snel progressieve distale spierzwakte, en afwezige diepe peesreflexen, in afwezigheid van contracturen, en die leidt tot overlijden voor de leeftijd van 8 maanden. Neuropathologische bevindingen tonen ernstig verlies van grote en middelgrote gemyeliniseerde vezels onder tekenen van demyelinisatie."},"pt":{"name":"Polineuropatia neurossensorial axonal neonatal fatal autossómica recessiva"},"pl":{"name":"Autosomalna recesywna noworodkowa i letalna aksonalna polineuropatia czuciowo-ruchowa"},"cs":{"name":"Autozomálně recesivní letální neonatální axonální senzorimotorická polyneuropatie"},"uk":{"name":"Аутосомно-рецесивна летальна неонатальна аксональна сенсомоторна полінейропатія","definition":"A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination."},"zh":{"name":"常染色体隐性致死性新生儿感觉运动性轴索多发性神经病","definition":"一种罕见的、遗传性、常染色体隐性轴索遗传性运动和感觉神经病，其特点是出生前即出现严重的感觉运动型轴索多发性神经病（表现为胎儿活动减少和羊水过多），出生时表现为呼吸衰竭需要机械通气，深部肌张力低下，快速进展的远端肌无力，深部腱反射消失，在没有出现挛缩的情况下，导致8个月前死亡。神经病理检查结果显示大、中型髓鞘纤维严重缺失，无脱髓鞘迹象。"},"tr":{"name":"Otozomal resesif letal yenidoğan aksonal sensorimotor polinöropati"}},"xrefs":[{"source":"OMIM","code":"604431","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011463","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858353","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"22971091[PMID]_9771672[PMID]"}],"phenotypes":null}