{"orpha":2131,"name":"Alternating hemiplegia of childhood","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AHC"],"definition":"A rare neurological syndrome characterized by episodes of hemiplegia (alternating between the two sides of the body) or tetraplegia, and other accesses such as abnormal ocular movements, dystonia, and dysautonomia. Patients have permanent neurological impairment, variable degrees of intellectual disability, movement disorders, and psychiatric problems. Half of them present with epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2131/","orphanet_url":"https://www.orpha.net/en/disease/detail/2131","names":{"fr":{"name":"Hémiplégie alternante de l'enfance","definition":"Syndrome neurologique rare caractérisé par des épisodes d'hémiplégie (alternant entre les deux côtés du corps) ou de tétraplégie, et d'autres épisodes tels que des mouvements oculaires anormaux, une dystonie et une dysautonomie. Les patients présentent un déficit neurologique permanent, une déficience intellectuelle de degré variable, des mouvements anormaux et des problèmes psychiatriques. La moitié d'entre eux présentent une épilepsie."},"de":{"name":"Hemiplegie, alternierende, der Kindheit","synonyms":["AHC"],"definition":"Ein seltenes neurologisches Syndrom, das durch Episoden von Hemiplegie (abwechselnd auf beiden Seiten des Körpers) oder Tetraplegie sowie durch andere Auffälligkeiten wie abnorme Augenbewegungen, Dystonie und Dysautonomie gekennzeichnet ist. Die Patienten haben dauerhafte neurologische Beeinträchtigungen, unterschiedliche Grade von Intelligenzminderung, Bewegungsstörungen und psychiatrische Probleme. Die Hälfte von ihnen leidet unter Epilepsie."},"es":{"name":"Hemiplejía alternante de la infancia","definition":"Es un síndrome neurológico poco frecuente caracterizado por episodios de hemiplejía (alternante entre ambos lados del cuerpo) o tetraplejía, y otras complicaciones como movimientos oculares anómalos, distonía y disautonomía. Los pacientes presentan afectación neurológica permanente, grados variables de discapacidad intelectual, trastornos del movimiento y trastornos psiquiátricos. El 50% de los pacientes presenta epilepsia."},"it":{"name":"Emiplegia alternante dell'infanzia","synonyms":["AHC","Emiplegia alternante del bambino"],"definition":"L'emiplegia alternante dell'infanzia (AHC) è una malattia genetica rara dello sviluppo neurologico, caratterizzata da episodi di emiplegia transitori e ricorrenti (compresa la quadriplegia) ad esordio precoce, che di solito scompaiono con il sonno."},"nl":{"name":"Alternerende hemiplegie in de kindertijd","synonyms":["AHC"],"definition":"Een zeldzaam neurologisch syndroom, gekenmerkt door episodes van hemiplegie (alternerend tussen de twee zijden van het lichaam) of tetraplegie, en andere kenmerken zoals abnormale oogbewegingen, dystonie, en dysautonomie. Patiënten hebben permanente neurologische functiestoornis, variabele gradaties van intellectuele achterstand, bewegingsstoornissen, en psychiatrische problemen. De helft van hen vertoont epilepsie."},"pt":{"name":"Hemiplegia alternante da infância","synonyms":["AHC"],"definition":"A hemiplegia alternante da infância (AHC) é uma doença rara do neurodesenvolvimento caracterizada por episódios recorrentes de hemiplegia e distúrbios paroxísticos, associados a atraso do desenvolvimento persistente e comprometimento cognitivo."},"pl":{"name":"Zmienne porażenie dziecięce","synonyms":["AHC"]},"cs":{"name":"Alternující hemiplegie dětského věku","synonyms":["AHC"]},"uk":{"name":"Альтернуюча геміплегія дитячого віку","synonyms":["AHC"],"definition":"A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep."},"zh":{"name":"儿童交替性偏瘫","synonyms":["AHC"]},"tr":{"name":"Çocukluk çağı alternatif hemiplejisi","synonyms":["AHC"]}},"xrefs":[{"source":"OMIM","code":"104290","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614820","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G98","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MB53.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"301329822"},{"source":"MONDO","code":"0016241","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536589","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0338488","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077948","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":209978,"name":"Alternating hemiplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CACNA1A","name":"calcium voltage-gated channel subunit alpha1 A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"18498393[PMID]","hgnc":"1388","ensembl":"ENSG00000141837","omim":"601011","loci":["19p13.13"]},{"symbol":"SLC1A3","name":"solute carrier family 1 member 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10941","ensembl":"ENSG00000079215","omim":"600111","loci":["5p13.2"]},{"symbol":"ATP1A2","name":"ATPase Na+/K+ transporting subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15286158[PMID]","hgnc":"800","ensembl":"ENSG00000018625","omim":"182340","loci":["1q23.2"]},{"symbol":"ATP1A3","name":"ATPase Na+/K+ transporting subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22842232[PMID]","hgnc":"801","ensembl":"ENSG00000105409","omim":"182350","loci":["19q13.2"]},{"symbol":"MT-TL2","name":"mitochondrially encoded tRNA-Leu (CUN) 2","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32489883[PMID]","hgnc":"7491","ensembl":"ENSG00000210191","omim":"590055","loci":["mitochondria"]},{"symbol":"RHOBTB2","name":"Rho related BTB domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33504645[PMID]","hgnc":"18756","ensembl":"ENSG00000008853","omim":"607352","loci":["8p21.3"]},{"symbol":"SCN2A","name":"sodium voltage-gated channel alpha subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38097767[PMID]","hgnc":"10588","ensembl":"ENSG00000136531","omim":"182390","loci":["2q24.3"]},{"symbol":"SLC2A1","name":"solute carrier family 2 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19996082[PMID]","hgnc":"11005","ensembl":"ENSG00000117394","omim":"138140","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.94,"area":"Denmark","status":"Validated","source":"24100174[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-30","source":"32883312[PMID]_20301294[PMID]_32280259[PMID]","terms":[{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012194","label":"Episodic hemiplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","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:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011499","label":"Mydriasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031931","label":"Ocular flutter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007166","label":"Paroxysmal dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032649","label":"Skewfoot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Excluded (0%)","criteria":null}]}}