{"orpha":401866,"name":"Childhood-onset spasticity with hyperglycinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Childhood-onset spasticity with variant non-ketotic hyperglycinemia","Spasticity-ataxia-gait anomalies syndrome"],"definition":"Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401866/","orphanet_url":"https://www.orpha.net/en/disease/detail/401866","names":{"fr":{"name":"Spasticité de l'enfant avec une hyperglycinémie non cétosique","synonyms":["Syndrome spasticité-ataxie-anomalies de la marche"],"definition":"Maladie neurométabolique rare caractérisée par une ataxie spastique progressive apparaissant dans l'enfance, associée à des troubles de la marche, une hyperréflexie, un signe de Babinski positif et une hyperglycémie non cétosique typiquement révélée par une analyse biochimique. Par ailleurs, des signes de spasticité des membres supérieurs, de dysarthrie, de difficultés d'apprentissage, de manque de concentration, de nystagmus, d'atrophie optique et de baisse de l'acuité visuelle peuvent également être associés."},"de":{"name":"Spastik mit Hyperglyzinämie, im Kindesalter beginnend","synonyms":["Im Kindesalter beginnende Spastik mit nicht-ketotischer Hyperglyzinämie-Variante","Spastik-Ataxie-Ganganomalien-Syndrom"]},"es":{"name":"Espasticidad de inicio infantil con hiperglicinemia","synonyms":["Espasticidad de inicio en la infancia con hiperglicinemia no cetósica","Síndrome de espasticidad-ataxia-anomalías de la marcha"],"definition":"Es una enfermedad neurometabólica poco frecuente, caracterizada por ataxia espástica progresiva de inicio en la infancia asociada a trastornos de la marcha, hiperreflexia, respuestas plantares extensoras e hiperglicinemia no cetósica, detectada normalmente en el análisis bioquímico. También se pueden asociar signos adicionales, como: espasticidad de las extremidades superiores, disartria, dificultades de aprendizaje, falta de concentración, nistagmo, atrofia óptica y disminución de la agudeza visual."},"it":{"name":"Spasticità ad esordio infantile con iperglicinemia","definition":"La spasticità ad esordio infantile con iperglicinemia è una malattia neurometabolica rara, che esordisce nell'infanzia con atassia spastica progressiva, associata ad anomalie della deambulazione, iperreflessia, risposte plantari in estensione ed iperglicinemia non chetotica evidenziata dalle analisi biochimiche. Altri segni clinici sono la spasticità agli arti superiori, la disartria, le difficoltà di apprendimento e di concentrazione, il nistagmo, l'atrofia ottica e la riduzione dell'acuità visiva."},"nl":{"name":"Spasticiteit met hyperglycinemie met aanvang in de kindertijd","synonyms":["Spasticiteit - ataxie - ganganomalieën-syndroom","Spasticiteit met variante niet-ketotische hyperglycinemie met aanvang in de kindertijd"],"definition":"Spasticiteit met hyperglycinemie met aanvang in de kindertijd is een zeldzame neurometabole ziekte die gekarakteriseerd wordt door een in de kindertijd aanvangende, progressieve spastische ataxie, geassocieerd met gangstoornissen, hyperreflexie, pathologische voetzoolreflexen en niet-ketotische hyperglycinemie die doorgaans ontdekt wordt door biochemische analyse. Bijkomende tekenen van spasticiteit in de bovenste ledematen, dysartrie, leermoeilijkheden, concentratieproblemen, nystagmus, opticusatrofie en verminderde gezichtsscherpte kunnen ook geassocieerd zijn."},"pt":{"name":"Espasticidade com hiperglicemia de início na infância","synonyms":["Síndrome de espasticidade-ataxia-anomalias na marcha"]},"pl":{"name":"Zespół spastyczność-ataksja-anomalie chodu","synonyms":["Childhood-onset spasticity with variant non-ketotic hyperglycinemia","Spasticity-ataxia-gait anomalies syndrome"]},"cs":{"name":"Syndrom zahrnující spasticitu, ataxii a anomálie chůze","synonyms":["Childhood-onset spasticity with variant non-ketotic hyperglycinemia","Spasticity-ataxia-gait anomalies syndrome"]},"uk":{"name":"Дитяча спастичність з гіперглікемією та гіперглікемією","synonyms":["Дитяча спастичність з варіантом некетозної гіперглікемії","Синдром спастичнсті, атаксії та порушенням ходи"],"definition":"Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated."},"zh":{"name":"童年发作性痉挛伴高氨酸血症","synonyms":["儿童期发病痉挛伴非酮症性高甘氨酸血症"],"definition":"儿童期起病的高甘氨酸血症相关痉挛是一种罕见的神经代谢性疾病，主要表现为儿童期起病的进行性痉挛性共济失调，合并步态异常，反射亢进，巴氏征阳性，可采用生化检验检测到的非酮症高甘氨酸血症。其他临床表型包括上肢的痉挛，构音困难，学习障碍，注意力障碍，眼球震颤，视神经萎缩，可存在视力敏锐度减退。"},"tr":{"name":"Hiperglisinemi ile seyreden çocukluk çağı-başlangıçlı spastisite","synonyms":["Spastisite-ataksi-yürüyüş anormallikleri sendromu","Ketotik olmayan hiperglisinemi varyantı ile seyreden çocukluk çağı başlangıçlı spastisite"]}},"xrefs":[{"source":"OMIM","code":"616859","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014803","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225178","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":401854,"name":"Lipoic acid biosynthesis defect","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":316226,"name":"Spastic ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GLRX5","name":"glutaredoxin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24334290[PMID]_24777537[PMID]","hgnc":"20134","ensembl":"ENSG00000182512","omim":"609588","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24777537[PMID]_17485548[PMID]_24334290[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17485548[PMID]_24334290[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-02","source":"26100117[PMID]_24334290[PMID]","terms":[{"hpo":"HP:0008288","label":"Nonketotic hyperglycinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002928","label":"Decreased activity of the pyruvate dehydrogenase complex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008945","label":"Loss of ability to walk in early childhood","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Excluded (0%)","criteria":null}]}}