{"orpha":324262,"name":"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency","Autosomal recessive spinocerebellar ataxia type 13","SCAR13"],"definition":"A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324262/","orphanet_url":"https://www.orpha.net/en/disease/detail/324262","names":{"fr":{"name":"Ataxie cérébelleuse congénitale autosomique récessive par déficit en MGLUR1","synonyms":["Ataxie cérébelleuse congénitale autosomique récessive par déficit en récepteur métabotrophique 1 du glutamate","Ataxie spinocérébelleuse autosomique récessive type 13","SCAR13"],"definition":"L'ataxie cérébelleuse congénitale autosomique récessive par déficit en MGLUR1 est une maladie neurodégénérative génétique rare, lentement progressive, causée par un déficit en MGLUR1. Elle se caractérise par un retard du développement global (dès la petite enfance), un déficit intellectuel léger à sévère, une absence de parole ou un langage parlé pauvre, une posture et une démarche légèrement à sévèrement ataxiques, des signes pyramidaux (hyperréflexie), ainsi qu'une dysdiadochokinésie, une dysmétrie, des tremblements et/ou une dysarthrie. Des signes oculomoteurs tels qu'un nystagmus, un strabisme, un ptosis et des saccades hypométriques peuvent aussi être associés. L'imagerie cérébrale révèle une atrophie cérébelleuse généralisée, progressive, modérée à sévère, une hypoplasie vermienne inférieure et/ou un cerveau constitutionnellement petit."},"de":{"name":"Autosomal-rezessive kongenitale zerebelläre Ataxie durch MGLUR1-Mangel","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 13","Autosomal-rezessive kongenitale zerebelläre Ataxie durch metabotropen Glutamatrezeptor 1-Mangel","SCAR13"],"definition":"Die autosomal-rezessiv vererbte kongenitale Kleinhirnataxie aufgrund eines MGLUR1-Mangels ist eine seltene, genetisch bedingte, langsam fortschreitende neurodegenerative Erkrankung, die durch eine globale Entwicklungsverzögerung (beginnend im Säuglingsalter), eine leichte bis schwere Intelligenzminderung mit schlechtem oder fehlendem Sprachvermögen, mäßige bis schwere Ataxie des Standes und des Ganges, pyramidale Zeichen (z. B. Hyperreflexie) und leichte Dysdiadochokinese, Dysmetrie, Tremor und/oder Dysarthrie gekennzeichnet ist. Okulomotorische Zeichen wie Nystagmus, Strabismus, Ptose und hypometrische Sakkaden können ebenfalls auftreten. Die Bildgebung des Gehirns zeigt eine progressive, generalisierte, mäßige bis schwere Kleinhirnatrophie, eine inferiore Vermis-Hypoplasie und/oder ein konstitutionell kleines Gehirn."},"es":{"name":"Ataxia cerebelosa congénita por deficiencia de MGLUR1 autosómica recesiva","synonyms":["Ataxia cerebelosa congénita autosómica recesiva por deficiencia del receptor metabotrópico de glutamato 1","Ataxia espinocerebelosa autosómica recesiva tipo 13","SCAR13"],"definition":"Es una enfermedad neurodegenerativa progresiva, genética y poco frecuente, que resulta de la deficiencia de <i>MGLUR1</i>. Está caracterizada por retraso generalizado del desarrollo (de inicio en la lactancia), discapacidad intelectual de leve a grave con lenguaje pobre o ausente, ataxia estática y de la marcha de moderada a grave, signos piramidales (por ejemplo, hiperreflexia) y disdiadococinesia leve, dismetría, temblores y/o disartria. También puede estar asociada a signos oculomotores, tales como nistagmus, estrabismo, ptosis y sacudidas hipométricas. Las imágenes cerebrales revelan atrofia cerebelosa progresiva generalizada, de moderada a severa, hipoplasia vermiana inferior y/o cerebro constitucionalmente pequeño."},"it":{"name":"Atassia cerebellare congenita autosomica recessiva da deficit di MGLUR1","synonyms":["Atassia cerebellare congenita autosomica recessiva da deficit del recettore metabotropico del glutammato 1","Atassia spinocerebellare autosomica recessiva, tipo 13","SCAR13"],"definition":"L'atassia cerebellare congenita autosomica recessiva da deficit di MGLUR1 è una malattia neurodegenerativa rara, a progressione lenta, di origine genetica, causata dal deficit di MGLUR1. È caratterizzata da ritardo dello sviluppo globale (ad esordio nell'infanzia), deficit intellettivo lieve-grave, assenza o importante riduzione del linguaggio, moderata-grave atassia della postura e dell'andatura, segni piramidali (iperreflessia), lieve disdiadococinesia, dismetria, tremori e/o disartria. Possono associarsi segni oculo-motori come il nistagmo, lo strabismo, la ptosi e le saccadi ipometriche. La risonanza magnetica del cervello evidenzia atrofia cerebellare progressiva, generalizzata, moderata o grave, ipoplasia della porzione inferiore del verme e/o ipoplasia costituzionale del cervello."},"nl":{"name":"Autosomaal recessieve congenitale cerebellaire ataxie door MGLUR1-deficiëntie","synonyms":["Autosomaal recessieve congenitale cerebellaire ataxie door metabotropische glutamaatreceptor 1-deficiëntie","Autosomaal recessieve spinocerebellaire ataxie type 13","SCAR13"],"definition":"Een zeldzame, genetische, traag progressieve neurodegeneratieve ziekte als gevolg van MGLUR1-deficiëntie, gekarakteriseerd door algehele ontwikkelingsachterstand (startend in de zuigelingentijd), milde tot ernstige intellectuele achterstand met slecht of afwezig spraakvermogen, matige tot ernstige ataxie van houding en gang, piramidale tekenen (e.g. hyperreflexie) en milde dysdiadochokinesie, dysmetrie, tremoren, en/of dysartrie. Oculomotorische tekenen, zoals nystagmus, strabisme, ptose en hypometrische saccades, kunnen ook geassocieerd zijn. Beeldvorming van de hersenen toont progressieve, gegeneraliseerde, matige tot ernstige cerebellaire atrofie, hypoplasie van het onderste deel van de vermis, en/of constitutioneel kleine hersenen."},"pt":{"name":"Ataxia cerebelosa congénita autossómica recessiva por défice de MGLUR1"},"pl":{"name":"Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru MGLUR1","synonyms":["Autosomalna recesywna ataksja móżdżkowo-rdzeniowa typu 13","Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru receptora 1 metabotropowego glutaminianu","SCAR13"]},"cs":{"name":"Autozomálně recesivní vrozená cerebelární ataxie způsobená MGLUR1 deficitem","synonyms":["SCAR13","Autozomálně recesivní vrozená cerebelární ataxie způsobená deficitem metabotropického glutamát receptoru 1","Autozomálně recesivní spinocerebelární ataxie, typ 13"]},"uk":{"name":"Аутосомно-рецесивна вроджена мозочкова атаксія, зумовлена дефіцитом MGLUR1","synonyms":["Аутосомно-рецесивна вроджена мозочкова атаксія внаслідок дефіциту метаботропного глутаматного рецептора 1","Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 13","SCAR13"],"definition":"A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain."},"zh":{"name":"MGLUR1基因缺陷所致常染色体隐性遗传先天性小脑共济失调","synonyms":["常染色体隐性遗传脑桥小脑共济失调13型"],"definition":"一种罕见的遗传性缓慢进展的神经退行性疾病，由MGLUR1缺乏引起，其特征为整体发育迟缓(始于婴儿期)、轻至重度智力缺陷伴语言发育不良或缺失、中度至重度站立和步态共济失调、锥体束征(如反射亢进)和轻度发育异常、对称性障碍、震颤和/或构音障碍。眼球运动症状，如眼球震颤、斜视、上睑下垂和低度扫视，也可能与此有关。脑成像显示进行性、全身性、中度至重度小脑萎缩、下蚓部发育不全和/或体质性脑小。"},"tr":{"name":"MGLUR1 eksikliğine bağlı otozomal resesif doğumsal serebellar ataksi","synonyms":["Metabotropik glutamat reseptör 1 eksikliğine bağlı otozomal çekinik doğumsal serebellar ataksi","SCAR13","Otozomal çekinik spinoserebellar ataksi tip 13"]}},"xrefs":[{"source":"OMIM","code":"614831","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013905","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553816","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":363429,"name":"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GRM1","name":"glutamate metabotropic receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22901947[PMID]","hgnc":"4593","ensembl":"ENSG00000152822","omim":"604473","loci":["6q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"22901947[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-14","source":"22901947[PMID]","terms":[{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011347","label":"Abnormality of ocular abduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","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:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000571","label":"Hypometric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002406","label":"Limb dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007979","label":"Gaze-evoked horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}