{"orpha":557056,"name":"Spastic ataxia-dysarthria due to glutaminase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-557056/","orphanet_url":"https://www.orpha.net/en/disease/detail/557056","names":{"fr":{"name":"Ataxie spastique-dysarthrie par déficit en glutaminase","definition":"Maladie neurométabolique génétique rare caractérisée par l'apparition, dès l'enfance, d'un retard global du développement, d'une ataxie spastique progressive entraînant la perte de l'autonomie de la marche et une hausse des taux plasmatiques de glutamine. Une atrophie optique, des tremblements et une dysarthrie ont également été rapportés. L'IRM peut révéler une atrophie cérébelleuse."},"de":{"name":"Spastische Ataxie mit Dysarthrie durch Glutaminase-Mangel","definition":"Eine seltene genetisch bedingte neurometabolische Erkrankung, die sich durch eine globale Entwicklungsverzögerung in der Kindheit, eine progressive spastische Ataxie, die zum Verlust des selbstständigen Gehens führt, und erhöhte Glutaminwerte im Plasma auszeichnet. Es wurde auch über Optikusatrophie, Tremor und Dysarthrie berichtet. Die Bildgebung des Gehirns kann eine Atrophie des Kleinhirns zeigen."},"es":{"name":"Ataxia espástica-disartria por deficiencia de glutaminasa","definition":"Es una enfermedad neurometabólica genética poco frecuente caracterizada por la aparición en la infancia de un retraso global del desarrollo psicomotor, ataxia espástica progresiva que conduce a la pérdida de la deambulación independiente y niveles elevados de glutamina en plasma. También se ha descrito atrofia óptica, temblor y disartria. Las imágenes cerebrales pueden mostrar atrofia cerebelosa."},"it":{"name":"Atassia spastica associata a disartria da deficit di glutaminasi","definition":"Si tratta di una malattia neurometabolica rara, di origine genetica, che esordisce nell'infanzia con ritardo dello sviluppo globale, atassia spastica progressiva che esita nella perdita della deambulazione indipendente, e livelli elevati di glutammina nel plasma. Può associarsi ad atrofia ottica, tremori e disartria. Le neuroimmagini mostrano atrofia cerebellare."},"nl":{"name":"Spastische ataxie-dysartrie door glutaminasedeficiëntie","definition":"Een zeldzame, genetische neurometabole aandoening, gekarakteriseerd door aanvang in de kindertijd van algehele ontwikkelingsachterstand, progressieve spastische ataxie die leidt tot verlies van zelfstandig loopvermogen, en verhoogde glutaminegehaltes in plasma. Opticusatrofie, tremor, en dysartrie werden ook reeds gerapporteerd. Beeldvorming van hersenen kan ook cerebellaire atrofie tonen."},"pt":{"name":"Ataxia espástica-disartria por deficiência de glutaminase"},"pl":{"name":"Ataksja spastyczna i dyzartria z powodu deficytu glutaminazy"},"cs":{"name":"Spastické ataxie-dysartrie z glutaminázového deficitu"},"uk":{"name":"Спастична атаксія-дизартрія, зумовлена дефіцитом глутамінази","definition":"A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy."},"zh":{"name":"谷氨酰胺酶缺乏诱导的痉挛性共济失调-构音障碍","definition":"一种罕见的遗传性神经代谢病，其特点是儿童期开始出现全面发育迟缓，进行性痉挛性共济失调，导致丧失独立行走能力，血浆中谷氨酰胺水平升高。也有报道称视神经萎缩、震颤和构音障碍。脑影像学检查可能显示小脑萎缩。"},"tr":{"name":"Glutaminaz eksikliğine bağlı spastik ataksi-dizartri"}},"xrefs":[{"source":"OMIM","code":"618412","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","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":"0034146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681336","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":289841,"name":"Disorder of glutamine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GLS","name":"glutaminase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30575854[PMID]_30970188[PMID]_30987386[PMID]","hgnc":"4331","ensembl":"ENSG00000115419","omim":"138280","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"29468182[PMID]_30987386[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29468182[PMID]_30987386[PMID]"}],"phenotypes":null}