{"orpha":538101,"name":"Congenital axonal neuropathy with encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538101/","orphanet_url":"https://www.orpha.net/en/disease/detail/538101","names":{"fr":{"name":"Neuropathie axonale congénitale avec encéphalopathie","definition":"Neuropathie sensitivo-motrice axonale héréditaire autosomique récessive congénitale rare, caractérisée par une neuropathie axonale, se manifestant à la naissance ou peu de temps après par une hypotonie musculaire généralisée, une faiblesse musculaire à prédominance distale, des troubles de la déglutition/respiratoires et une aréflexie diffuse, en association avec une atteinte du système nerveux central à type de microcéphalie progressive, de convulsions et de retard de développement global. Inconstantes, les autres manifestations comprennent des troubles auditifs, des lésions oculaires, des anomalies squelettiques (pied bot, chevauchement des orteils, scoliose, contractures articulaires), une cryptorchidie et une dysmorphie (traits grossiers de visage, hypertélorisme, palais ogival). Le pronostic est généralement défavorable en raison de l'insuffisance respiratoire et/ou de la pneumonie d'inhalation."},"de":{"name":"Kongenitale axonale Neuropathie mit Enzephalopathie","definition":"Eine seltene, kongenitale, autosomal-rezessive motorische und sensorische Neuropathie, die durch eine axonale Neuropathie gekennzeichnet ist, die sich bei der Geburt oder kurz danach mit einer generalisierten Muskelhypotonie, einer ausgeprägten distalen Muskelschwäche, Atem-/Schluckstörungen und einer diffusen Areflexie manifestiert und mit einer Beteiligung des zentralen Nervensystems einhergeht (inkl. progressiver Mikrozephalie, Krampfanfälle und globaler Entwicklungsverzögerung). Weitere variable Manifestationen sind Hörstörungen, Augenläsionen, Skelettanomalien (z. B. Klumpfüße, überstehende Zehen, Skoliose, Gelenkkontrakturen), Kryptorchismus und dysmorphe Merkmale (wie grobe Gesichtszüge, Hypertelorismus, hochgewölbter Gaumen). Das Outcome ist typischerweise schlecht aufgrund von respiratorischer Insuffizienz und/oder Aspirationspneumonie."},"es":{"name":"Neuropatía axonal congénita con encefalopatía","definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica recesiva, congénita y poco frecuente, caracterizada por neuropatía axonal, que se manifiesta al nacimiento o poco después como hipotonía muscular generalizada, marcada debilidad muscular distal, dificultades respiratorias/ de deglución y arreflexia difusa, asociada a afectación del sistema nervioso central, que incluye microcefalia progresiva, crisis epilépticas y retraso psicomotor global. Otras manifestaciones variables asociadas incluyen deficiencia auditiva, lesiones oculares, anomalías esqueléticas (p. ej. pie zambo, dedos de los pies superpuestos, escoliosis, contracturas articulares), criptorquidia y rasgos dismórficos (como facies tosca, hipertelorismo, paladar ojival). Por lo general, el pronóstico es desfavorable debido a insuficiencia respiratoria y/o neumonía por aspiración."},"it":{"name":"Neuropatia assonale congenita con encefalopatia","definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria congenita rara, a trasmissione autosomica recessiva, caratterizzata da neuropatia assonale, che esordisce alla nascita o poco dopo con ipotonia muscolare generalizzata, debolezza muscolare per lo più distale, difficoltà alla respirazione/deglutizione e areflessia diffusa. È presente un interessamento del sistema nervoso contrale, che comprende la microcefalia progressiva, le crisi epilettiche e il ritardo dello sviluppo globale. Altri segni clinici variabili sono la compromissione dell'udito, le lesioni oculari, le anomalie scheletriche (ad es. i piedi equino-vari, la sovrapposizione delle dita dei piedi, la scoliosi e le contratture articolari), il criptorchidismo e i dismorfismi facciali (aspetto grossolano del viso, ipertelorismo, palato ogivale). Di solito l'esito è sfavorevole a causa dell'insufficienza respiratoria e/o della polmonite da aspirazione."},"nl":{"name":"Congenitale axonale neuropathie met encefalopathie","definition":"Een zeldzame, congenitale, autosomaal recessieve axonale erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door axonale neuropathie, die zich bij de geboorte of kort erna manifesteert met gegeneraliseerde musculaire hypotonie, prominente distale spierzwakte, slik- en ademhalingsproblemen en diffuse areflexie, en die is geassocieerd met betrokkenheid van het centrale zenuwstelsel, waaronder progressieve microcefalie, insulten, en algehele ontwikkelingsachterstand. Bijkomende variabele manifestaties zijn onder meer slechthorendheid, oculaire letsels, skeletanomalieën (e.g. talipes equinovarus (klompvoet), overlappende tenen, scoliose, gewrichtscontracturen), cryptorchisme, en dysmorfe kenmerken (zoals grof gelaat, hypertelorisme, hoog gebogen verhemelte). De uitkomst is doorgaans slecht vanwege respiratoire insufficiëntie en/of aspiratiepneumonie."},"pt":{"name":"Neuropatia axonal congénita com encefalopatia"},"pl":{"name":"Wrodzona aksonalna neuropatia z encefalopatią"},"cs":{"name":"Vrozená axonální neuropatie s encefalopatií"},"uk":{"name":"Вроджена аксональна нейропатія з енцефалопатією","definition":"A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia."},"zh":{"name":"先天性轴索神经病伴脑病","definition":"一种罕见的先天性、常染色体隐性轴索遗传性运动和感觉神经病变疾病，以轴索神经病变为特征，出生时或出生后不久表现为全身性肌张力低下、明显远端肌无力、呼吸/吞咽困难和弥漫性反射消失，与中枢神经系统受累相关的表现包括进行性小头畸形、癫痫发作和全面发育迟缓。其他可变的表现包括听力障碍、眼部病变、骨骼畸形（如马蹄内翻足、重叠趾、脊柱侧弯、关节挛缩）、隐睾和畸形特征（如粗大面容、器官间距过远、硬腭高拱）。由于呼吸功能不全和（或）吸入性肺炎，结局通常很差。"},"tr":{"name":"Ensefalopatili ile seyreden Doğumsal aksonal nöropati"}},"xrefs":[{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034041","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681314","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":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18358405[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"18358405[PMID]"}],"phenotypes":null}