{"orpha":313772,"name":"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome","Autosomal recessive spastic ataxia type 5","SPAX5"],"definition":"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313772/","orphanet_url":"https://www.orpha.net/en/disease/detail/313772","names":{"fr":{"name":"Syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie précoce","synonyms":["Ataxie spastique autosomique récessive type 5","SPAX5","Syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie associé à AFG3L2"],"definition":"Un syndrome rare d'ataxie spastique héréditaire caractérisé par une paralysie spastique des membres inférieurs et une ataxie cérébelleuse (avec une dysarthrie, des difficultés pour déglutir, une dégénérescence motrice) survenant pendant l'enfance et progressant lentement, associées à une neuropathie sensorimotrice (incluant une faiblesse musculaire et une amyotrophie distale des extrémités inférieures) et une épilepsie myoclonique progressive. Des signes oculaires (ptosis, apraxie oculomotrice), une dysmétrie, une dysdiadochocinésie, des mouvements dystoniques et un myoclonus peuvent aussi être associés."},"de":{"name":"Früh beginnende spastische Ataxie-myoklonische Epilepsie-Neuropathie-Syndrom","synonyms":["Ataxie, spastische, autosomal-rezessive, Typ 5","SPAX5","Spastische Ataxie, autosomal-rezessive, Typ 5","Spastische Ataxie-Neuropathie-Syndrom, AFG3L2-assoziiertes"]},"es":{"name":"Síndrome de ataxia espástica-epilepsia mioclónica-neuropatía de inicio precoz","synonyms":["Síndrome de ataxia espástica-neuropatía asociado al gen AFG3L2","Ataxia espástica autosómica recesiva tipo 5","SPAX5","Síndrome asociado al gen AFG3L2 de ataxia espástica-epilepsia mioclónica-neuropatía"],"definition":"Es una ataxia espástica hereditaria poco frecuente caracterizada por un inicio en la infancia de paraparesia espástica lentamente progresiva de las extremidades inferiores y ataxia cerebelosa (con disartria, dificultad para tragar, degeneración motora), junto con neuropatía sensitivo-motora (que incluye debilidad muscular y amiotrofia distal en las extremidades inferiores) y epilepsia mioclónica progresiva. También se pueden asociar signos oculares (ptosis, apraxia oculomotora), dismetría, disdiadococinesia, movimientos distónicos y mioclonías."},"it":{"name":"Sindrome da atassia spastica, epilessia mioclonica e neuropatia ad esordio precoce","synonyms":["Atassia spastica autosomica recessiva 5","SPAX5","Sindrome atassia spastica-neuropatia, AFG3L2-correlata"],"definition":"La sindrome da atassia spastica, epilessia mioclonica e neuropatia ad esordio precoce è una forma rara di atassia spastica ereditaria, che esordisce nell'infanzia con paraparesi spastica degli arti inferiori a progressione lenta e atassia cerebellare (disartria, difficoltà nella deglutizione, degenerazione motoria), associata a neuropatia sensitivo-motoria (debolezza muscolare e amiotrofia distale negli arti inferiori) ed epilessia mioclonica progressiva. Possono associarsi segni clinici oculari (ptosi, aprassia oculomotoria), dismetria, disdiadococinesia, movimenti distonici e mioclono."},"nl":{"name":"Vroeg optredende spastisch ataxie - myoclonische epilepsie - neuropathie-syndroom","synonyms":["AFG3L2-geassocieerde spastische ataxie - myoclonische epilepsie - neuropathie-syndroom","Autosomaal recessieve spastische ataxie type 5","SPAX5"],"definition":"Spastische ataxie - myoclonische epilepsie - neuropathie-syndroom met vroege aanvang is een zeldzame erfelijke spastische ataxie die gekarakteriseerd wordt door aanvang en de kindertijd van traag progressieve spastische paraparese van de onderste ledematen en cerebellaire ataxie (met dysartrie, moeilijkheden met slikken, degeneratie van motorische neuronen), geassocieerd met sensomotorische neuropathie (inclusief spierzwakte en distale amyotrofie in de onderste ledematen) en progressieve myoclonische epilepsie. Oculaire tekenen (ptose, oculomotorische apraxie), dysmetrie, dysdiadochokinesie, dystonische bewegingen en myoclonus kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome de ataxia espástica-epilepsia mioclónica-neuropatia de início precoce","synonyms":["Ataxia espástica autossómica recessiva tipo 5","SPAX5","Síndrome de ataxia-neuropatia espástica associada ao AFG3L2"]},"pl":{"name":"Zespół ataksja spastyczna o wczesnym początku – padaczka miokloniczna - neuropatia","synonyms":["Autosomalna recesywna ataksja spastyczna typu 5","SPAX5","Zespół ataksja spastyczna związana z AFG3L2-neuropatia"],"definition":"*Zespół ataksja spastyczna o wczesnym początku – padaczka miokloniczna - neuropatia jest rzadkim dziedzicznym zespołem z ataksją spastyczną, który rozwija się w dzieciństwie i charakteryzuje powoli postępującą paraparezą spastyczną kończyn dolnych i ataksją móżdżkową (z dysartrią, trudnościami w połykaniu, upośledzeniem funkcji ruchowych), której towarzyszy neuropatia czuciowo-ruchową (osłabienie i zanik dystalnych mięśni kończyn dolnych) oraz postępująca padaczka miokloniczna. Mogą również wystąpić objawy oczne (opadanie powiek, apraksja okoruchowa), dysmetria, dysdiadochokineza, ruchy dystoniczne i mioklonie."},"cs":{"name":"Spastická ataxie a neuropatie s časným nástupem","synonyms":["Syndrom zahrnující AFG3L2-vázanou spastickou ataxii a neuropatii","SPAX5","Autozomálně recesivní spastická ataxie, typ 5"]},"uk":{"name":"Синдром ранньої спастичної атаксії-міоклонічної епілепсії-нейропатії","synonyms":["Синдром спастичної атаксії-міоклонічної епілепсії-нейропатії, повязаний з AFG3L2","Аутосомно-рецесивна спастична атаксія типу 5","SPAX5"],"definition":"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated."},"zh":{"name":"早发性痉挛性共济失调-肌阵挛性癫痫-神经病变综合征","synonyms":["AFG3L2基因相关痉挛性共济失调-肌阵挛性癫痫-神经病变综合征"],"definition":"早发性痉挛性共济失调-肌阵挛性癫痫-神经病变综合征是一种罕见的遗传性痉挛性共济失调疾病，其特征是儿童期出现缓慢进展下肢痉挛性瘫痪和小脑共济失调（伴有构音障碍、吞咽困难、运动退化），伴有感觉运动神经病变（包括肌肉无力和下肢远端肌萎缩）和进行性肌阵挛性癫痫。也可表现为眼部症状（上睑下垂、动眼神经功能减退）、测量障碍、膈肌收缩障碍、肌张力障碍和肌阵挛。"},"tr":{"name":"Erken başlangıçlı spastik ataksi-miyoklonik epilepsi-nöropati sendromu","synonyms":["SPAX5","Otozomal çekinik spastik ataksi tip 5","AFG3L2-ilişkili spastik ataksi-miyoklonik epilepsi-nöropati sendromu"]}},"xrefs":[{"source":"OMIM","code":"614487","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013776","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280977","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":316240,"name":"Autosomal recessive spastic ataxia","classifications":[156,181]},{"orpha":35698,"name":"Mitochondrial DNA depletion syndrome","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AFG3L2","name":"AFG3 like matrix AAA peptidase subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22022284[PMID]","hgnc":"315","ensembl":"ENSG00000141385","omim":"604581","loci":["18p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22022284[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22022284[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-02","source":"22022284[PMID]_25401298[PMID]","terms":[{"hpo":"HP:0008316","label":"Abnormal mitochondria in muscle tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","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:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","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:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null}]}}