{"orpha":457205,"name":"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ANOAC","Axonal neuropathy-optic atrophy-cognitive deficit syndrome"],"definition":"A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457205/","orphanet_url":"https://www.orpha.net/en/disease/detail/457205","names":{"fr":{"name":"Syndrome de neuropathie sensitivo-motrice axonale-atrophie optique-neurodégénerescence à début infantile","synonyms":["ANOAC","Syndrome de neuropathie axonale-atrophie optique-déficience cognitive"],"definition":"Maladie neurologique rare caractérisée par une neuropathie sensitivo-motrice axonale, une atrophie optique progressive, un trouble cognitif, un dysfonctionnement bulbaire, des crises convulsives, ainsi qu'une hypotonie précoce et des difficultés à s'alimenter. Les autres signes cliniques possibles sont la dystonie, la scoliose, les contractures articulaires, les anomalies oculaires et les malformations urogénitales. L'IRM cérébrale met en évidence une atrophie cérébrale variable. La maladie est létale dans l'enfance en raison d'une insuffisance respiratoire."},"de":{"name":"Infantile axonale motorische und sensorische Neuropathie-Optikusatrophie-Neurodegeneration-Syndrom","synonyms":["ANOAC","Axonale Neuropathie-Optikusatrophie-kognitive Störung-Syndrom"],"definition":"Eine seltene neurologische Erkrankung mit sensomotorischer axonaler Neuropathie, progressiver Optikusatrophie, kognitiven Defiziten, bulbärer Dysfunktion, Krampfanfällen, frühkindlicher Hypotonie und Fütterstörungen. Weitere mögliche Merkmale sind Dystonie, Skoliose, Gelenkkontrakturen, okuläre Anomalien und urogenitale Anomalien. Die Kernspintomographie des Gehirns zeigt unterschiedliche Grade der zerebralen Atrophie. Die Krankheit endet im Kindesalter tödlich durch Atemversagen."},"es":{"name":"Síndrome neurodegenerativo de neuropatía axonal sensitivo-motora-atrofia óptica de inicio en la infancia","synonyms":["ANOAC","Síndrome de neuropatía axonal-atrofia óptica-deficiencia cognitiva"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por neuropatía axonal sensitivo-motora, atrofia óptica progresiva, déficit cognitivo, disfunción bulbar, crisis epilépticas e hipotonía temprana y dificultades en la alimentación. Otros posibles hallazgos incluyen distonía, escoliosis, contracturas articulares, anomalías oculares y urogenitales. La resonancia magnética cerebral revela diferentes grados de atrofia cerebral. La enfermedad es fatal en la infancia debido a la insuficiencia respiratoria."},"it":{"name":"Sindrome neuropatia sensitivo-motoria assonale ad esordio neonatale-atrofia ottica-degenerazione neurologica","definition":"Si tratta di una malattia neurologica rara, caratterizzata da neuropatia sentivo-motoria assonale, atrofia ottica progressiva, deficit cognitivo, disfunzione bulbare, crisi epilettiche, ipotonia precoce e difficoltà di alimentazione. I pazienti possono presentare anche distonia, scoliosi, contratture articolari, anomalie oculari e urogenitali. La RMN cerebrale mostra atrofia cerebrale di gravità variabile. La malattia è letale nell'infanzia a causa dell'insufficienza respiratoria."},"nl":{"name":"Infantiel axonale motorische en sensorische neuropathie - opticusatrofie - neurodegeneratie-syndroom","synonyms":["ANOAC","Axonale neuropathie - opticusatrofie - cognitieve stoornis-syndroom"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door axonale sensorimotorische neuropathie, progressieve opticusatrofie, cognitieve stoornis, bulbaire disfunctie, insulten, en vroege hypotonie en voedingsproblemen. Mogelijke bijkomende kenmerken zijn onder meer dystonie, scoliose, gewrichtscontracturen, ooganomalieën, en urogenitale anomalieën. MRI van hersenen toont variabele gradaties van cerebrale atrofie. De ziekte is fataal in de kindertijd als gevolg van respiratoir falen."},"pt":{"name":"Síndrome neurodegenerativo de neuropatia axonal sensitiva e motora-atrofia óptica com início na infância"},"pl":{"name":"Zespół neurodegeneracyjny o początku w wieku dziecięcym z aksonalną neuropatią ruchową i czuciową i zanikiem nerwu wzrokowego","synonyms":["ANOAC","Zespół neuropatii aksonalnej, zaniku nerwu wzrokowego i deficytu poznawczego"]},"cs":{"name":"Syndrom zahrnující infantilní axonální motorickou a senzorickou neuropatii, atrofii optiku a neurodegeneraci","synonyms":["ANOAC","Syndrom zahrnující axonální neuropatii, atrofii optiku a kognitivní deficit"]},"uk":{"name":"Інфантильна аксональна моторна та сенсорна нейропатія - атрофія зорового нерва - нейродегенеративний синдром","synonyms":["ANOAC","Синдром аксональної нейропатії - атрофії зорового нерва - когнітивного дефіциту"],"definition":"A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure."},"zh":{"name":"婴幼儿发作的轴突运动和感觉神经病变-视神经萎缩-神经退行性综合征","synonyms":["ANOAC"],"definition":"一种罕见的神经系统疾病，其特征是轴突感觉神经病变、进行性视神经萎缩、认知功能障碍、延髓功能障碍、癫痫发作、早期肌张力低下和进食困难。其他可能的特征包括肌张力障碍、脊柱侧弯、关节挛缩、眼球异常和泌尿生殖系统异常。脑MRI显示不同程度的脑萎缩。本病在儿童期因呼吸衰竭而致命。"},"tr":{"name":"İnfantil başlangıçlı aksonal motor ve duyusal nöropati-optik atrofi-nörodejeneratif sendrom","synonyms":["Aksonal nöropati-optik atrofi-bilişsel eksiklik sendromu","ANOAC"]}},"xrefs":[{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680002","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]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25504045[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25504045[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-11","source":"25504045[PMID]","terms":[{"hpo":"HP:0030179","label":"Abnormal peripheral action potential amplitude","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008366","label":"Foot joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007817","label":"Horizontal supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012411","label":"Premature pubarche","frequency":"Occasional (29-5%)","criteria":null}]}}