{"orpha":94124,"name":"Spinocerebellar ataxia with axonal neuropathy type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCAN1"],"definition":"Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94124/","orphanet_url":"https://www.orpha.net/en/disease/detail/94124","names":{"fr":{"name":"Syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 1","synonyms":["SCAN1"],"definition":"Un trouble génétique neurologique rare caractérisé par la survenue, tard dans l'enfance, d'une ataxie cérébelleuse lentement progressive. Les manifestations initiales incluent une faiblesse et une atrophie des muscles des membres distaux, une aréflexie et une perte des sensations liées à la douleur, aux vibrations et au toucher au niveau des extrémités supérieures et inférieures. Un nystagmus du regard, une dysarthrie cérébelleuse, une neuropathie périphérique, un steppage et des pieds creux se développent avec la progression de la maladie. Une atrophie cérébelleuse (affectant surtout le vermis) est présente chez tous les individus affectés. Les manifestations additionnelles rapportées incluent des convulsions, une légère atrophie cérébrale, une légère hypercholestérolémie et une hypoalbuminémie limite."},"de":{"name":"Ataxie, spinozerebelläre mit axonaler Neuropathie, Typ 1","synonyms":["SCAN1"],"definition":"Die spinozerebelläre Ataxie mit axonaler Neuropathie Typ 1 ist eine seltene, genetisch bedingte neurologische Erkrankung, die durch einen spätkindlichen Beginn einer langsam fortschreitenden zerebellären Ataxie gekennzeichnet ist. Zu den Erstmanifestationen gehören Schwäche und Atrophie der distalen Extremitätenmuskulatur, Areflexie und Verlust von Schmerz-, Vibrations- und Berührungsempfindungen in den oberen und unteren Extremitäten. Mit fortschreitender Erkrankung entwickeln sich Blicknystagmus, zerebelläre Dysarthrie, periphere Neuropathie, staksiger Gang und Pes cavus. Eine Atrophie des Kleinhirns (insbesondere des Vermis) ist bei allen betroffenen Personen vorhanden. Weitere berichtete Manifestationen sind Krampfanfälle, leichte Hirnatrophie, leichte Hypercholesterinämie und grenzwertige Hypoalbuminämie."},"es":{"name":"Ataxia espinocerebelosa con neuropatía axonal tipo 1","synonyms":["SCAN1"],"definition":"La ataxia espinocerebelosa con neuropatía axonal tipo 1 es un trastorno neurológico genético poco frecuente, caracterizado por un inicio en la infancia tardía de ataxia cerebelosa de lenta progresión. Las manifestaciones iniciales incluyen atrofia y debilidad de los músculos distales de las extremidades, arreflexia y alteración de las sensibilidades al tacto, vibración y dolor en las extremidades superiores e inferiores. A medida que la enfermedad avanza, se desarrolla nistagmo, disartria cerebelosa, neuropatía periférica, marcha equina y pie cavo. Todos los afectados presentan atrofia cerebelosa (especialmente del vermis). Otras manifestaciones notificadas incluyen convulsiones, atrofia cerebral leve, hipercolesterolemia leve e hipoalbuminemia limítrofe."},"it":{"name":"Atassia spinocerebellare associata a neuropatia assonale, tipo 1","synonyms":["SCAN1"],"definition":"L'atassia spinocerebellare associata a neuropatia assonale tipo 1 è una malattia neurologica rara di origine genetica, caratterizzata da atassia cerebellare a progressione lenta che esordisce nella tarda infanzia. I segni d'esordio comprendono la debolezza e l'atrofia dei muscoli della porzione distale degli arti, l'areflessia e la perdita della sensazione del dolore, della vibrazione e del tatto negli arti superiori e inferiori. Con la progressione della malattia, i pazienti sviluppano nistagmo orizzontale, disartria cerebellare, neuropatia periferica, andatura a base allargata e piede cavo. Tutti i pazienti presentano atrofia cerebellare (soprattutto del verme). Altri segni clinici comprendono le crisi epilettiche, la lieve atrofia cerebrale, con modesta ipercolesterolemia e ipoalbuminemia."},"nl":{"name":"Spinocerebellaire ataxie met axonale neuropathie type 1","synonyms":["SCAN1"],"definition":"Spinocerebellaire ataxie met axonale neuropathie type 1 is een zeldzame, genetische neurologische stoornis die gekarakteriseerd wordt door aanvang in de late kindertijd van traag progressieve cerebellaire ataxie. Initiële manifestaties zijn onder meer spierzwakte en -atrofie in de distale ledematen, areflexie en verlies van pijn-, vibratie- en tastzin in de bovenste en onderste ledematen. Bliknystagmus, cerebellaire dysartrie, perifere neuropathie, klapvoet en pes cavus (holvoet) ontwikkelen naarmate de ziekte vordert. Cerebellaire atrofie (voornamelijk van de vermis) is aanwezig bij alle getroffen individuen. Bijkomende gerapporteerde manifestaties zijn onder meer insulten, milde hersenatrofie, milde hypercholesterolemie en minimale hypoalbuminemie."},"pt":{"name":"Ataxia espinocerebelosa com neuropatia axonal tipo 1"},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa 1 z neuropatią aksonalną","synonyms":["SCAN1"]},"cs":{"name":"Spinocerebelární ataxie, typ 1 s axonální neuropatií","synonyms":["SCAN1"]},"uk":{"name":"Спіноцеребеллярна атаксія з аксональною нейропатією, тип 1","synonyms":["SCAN1"],"definition":"Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia."},"zh":{"name":"脊髓小脑性共济失调伴轴索神经病1型","synonyms":["SCAN1"],"definition":"脊髓小脑共济失调伴轴索神经病1型是一种罕见的遗传性神经系统疾病，其特征为儿童期晚期缓慢进行性小脑共济失调。最初表现为远端肢体肌肉无力和萎缩，上下肢反射消失和痛觉、振动觉及触觉丧失。随着疾病的发展，逐渐出现凝视性眼球震颤、小脑性构音障碍、周围神经病变、跨阈步态和高弓足。小脑萎缩（尤其是蚓部）在所有受累个体中都存在。其他表现包括癫痫发作、轻度脑萎缩、轻度高胆固醇血症和临界低蛋白血症。"},"tr":{"name":"Aksonal nöropati tip 1 ile seyreden spinoserebellar ataksi","synonyms":["TARAMA1"]}},"xrefs":[{"source":"OMIM","code":"607250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011801","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4759870","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10000","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98097,"name":"Autosomal recessive cerebellar ataxia due to a DNA repair defect","classifications":[156,181]},{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TDP1","name":"tyrosyl-DNA phosphodiesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301284[PMID]","hgnc":"18884","ensembl":"ENSG00000042088","omim":"607198","loci":["14q32.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12244316[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"12244316[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-22","source":"15744309[PMID]_12244316[PMID]","terms":[{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006858","label":"Impaired distal proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002503","label":"Spinocerebellar tract degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}