{"orpha":306741,"name":"Hemidystonia-hemiatrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HD-HA syndrome"],"definition":"Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306741/","orphanet_url":"https://www.orpha.net/en/disease/detail/306741","names":{"fr":{"name":"Syndrome d'hémidystonie-hémiatrophie","synonyms":["Syndrome HD-HA"],"definition":"Le syndrome d'hémidystonie-hémiatrophe (HD-HA) est une dystonie rare causée habituellement par une lésion statique cérébrale survenant à la naissance ou pendant la petite enfance. Il se caractérise par une hémidystonie (HD) impliquant la moitié du corps associée à une hémiatrohie (HA) du même côté que l'HD."},"de":{"name":"Hemidystonie-Hemiatrophie-Syndrom","synonyms":["HD-HA-Syndrom"]},"es":{"name":"Síndrome hemidistonía-hemiatrofia","synonyms":["Síndrome HD-HA"],"definition":"El síndrome hemidistonía-hemiatrofia (HD-HA) es una distonía poco frecuente, normalmente causada por una lesión cerebral estática producida al nacimiento o durante la infancia, que se caracteriza por una combinación de hemidistonía (HD), afectando una mitad del cuerpo, y hemiatrofia (HA) en el mismo lado de la HD."},"it":{"name":"Sindrome emidistonia-emiatrofia","synonyms":["Sindrome HD-HA"],"definition":"L'emidistonia-emiatrofia (HD-HA) è una distonia rara causata di solito da una lesione cerebrale statica che insorge alla nascita o nel periodo neonatale, ed è caratterizzata dall'associazione tra emidistonia (HD), che interessa un lato del corpo, ed emiatrofia (HA) sullo stesso lato dell'HD."},"nl":{"name":"Hemidystonie-hemiatrofie-syndroom","synonyms":["HD-HA-syndroom"],"definition":"Hemidystonie-hemiatrofie-syndroom (HD-HA) is een zeldzame dystonie die doorgaans wordt veroorzaakt door een statisch hersenletsel bij de geboorte of in de zuigelingentijd. De ziekte wordt gekarakteriseerd door een combinatie van hemidystonie (HD) met betrokkenheid van één helft van het lichaam, en hemiatrofie (HA) aan dezelfde zijde van het lichaam als HD."},"pt":{"name":"Síndrome de hemidistonia-hemiatrofia"},"pl":{"name":"Zespół hemidystonia-hemiatrofia","synonyms":["Zespół HD-HA"]},"cs":{"name":"Syndrom zahrnující hemidystonii a hemiatrofii","synonyms":["HD-HA syndrom"]},"uk":{"name":"Синдром гемодистонії-геміатрофії","synonyms":["Синдром HD-HA"],"definition":"Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD."},"zh":{"name":"偏身性肌张力障碍-半侧颜面萎缩综合征","synonyms":["偏身性肌张力障碍-半侧颜面萎缩综合征"],"definition":"偏侧肌张力障碍-偏侧萎缩综合征（HD-HA）是一种罕见的肌张力障碍，常由出生时或婴儿期发生静态脑损伤引起，其特点是合并出现一侧肢体偏侧肌张力障碍（HD）和HD同侧的单侧萎缩（HA）。"},"tr":{"name":"Hemidistoni-hemiatrofi sendromu","synonyms":["HD-HA sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017649","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510649","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68363,"name":"Rare dystonia","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-14","source":"19097182[PMID]_20482602[PMID]_22030388[PMID]","terms":[{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001787","label":"Abnormal delivery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100556","label":"Hemiatrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000245","label":"Abnormality of the paranasal sinuses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010540","label":"Advanced pneumatization of cranial sinuses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000250","label":"Dense calvaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012106","label":"Rhizomelic leg shortening","frequency":"Very rare (<4-1%)","criteria":null}]}}