{"orpha":306669,"name":"Hemiparkinsonism-hemiatrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HP-HA syndrome"],"definition":"Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306669/","orphanet_url":"https://www.orpha.net/en/disease/detail/306669","names":{"fr":{"name":"Syndrome d'hémiparkinsonisme-hémiatrophie","synonyms":["Syndrome HP-HA"],"definition":"Le syndrome d'hémiparkinsonisme-hémiatrophie est un trouble parkinsonien rare caractérisé par une atrophie corporelle unilatérale et lentement progressive, associée à des signes hémiparkinsoniens ipsilatéraux (bradykinésie, rigidité et tremblements). Les patients présentent habituellement une dystonie unilatérale et progressive des membres supérieurs et inférieurs, induite par l'effort, qui devient bilatérale ou est associée à des tremblements survenant surtout au repos, et évolue vers un hémiparkinsonisme. Une scoliose, une omoplate ailée, des épaules soulevées, des réflexes brusques et des réponses plantaires d'extension sont fréquemment associés au syndrome."},"de":{"name":"Hemiparkinson-Hemiatrophie-Syndrom","synonyms":["HP-HA-Syndrom"],"definition":"Das Hemiparkinson-Hemiatrophie-Syndrom ist eine seltene Parkinson-Erkrankung, die durch unilaterale Körperatrophie und langsam fortschreitende, ipsilaterale, halbseitige Parkinson-Symptome (Bradykinesie, Steifheit und Tremor) gekennzeichnet ist. Die Patienten präsentieren sich typischerweise mit einseitiger, aktionsinduzierter Dystonie in den oberen oder unteren Gliedmaßen, die fortschreitet und bilateral wird, oder mit Tremor, der vorwiegend in Ruhe auftritt und zu Hemiparkinsonismus fortschreitet. Häufig assoziiert sind Skoliose, muskuläre Schwäche des Schulterblatts (Scapula alata), hochgezogene Schultern, lebhafte Reflexe und plantare Streckreaktionen."},"es":{"name":"Síndrome hemiparkinsonianismo-hemiatrofia","synonyms":["Síndrome HP-HA"],"definition":"El síndrome de hemiparkinsonismo-hemiatrofia es un trastorno parkinsoniano poco frecuente caracterizado por atrofia corporal unilateral y signos hemiparkinsonianos ipsilaterales de aparición lentamente progresiva (bradicinesia, rigidez y temblor). Los afectados suelen presentar distonía unilateral inducida por la acción en las extremidades superiores o inferiores, que progresa y se vuelve bilateral o asociada a temblor, lo que sucede predominantemente en reposo y evoluciona a hemiparkinsonismo. Con frecuencia se asocia con escoliosis, aleteo escapular, hombros elevados, reflejos exaltados y respuestas plantares extensoras."},"it":{"name":"Sindrome emiparkinsonismo-emiatrofia","synonyms":["Sindrome HP-HA"],"definition":"La sindrome emiparkinsonismo-emiatrofia è un parkinsonismo raro caratterizzato da atrofia monolaterale del corpo e segni di emiparkinsonismo monolaterale a progressione lenta (bradicinesia, rigidità e tremori). Di solito i pazienti presentano distonia monolaterale indotta dall'azione, che interessa gli arti superiori o inferiori e progredisce sino a diventare bilaterale, oppure tremori che insorgono per lo più quando il paziente è a riposo e progrediscono verso l'emiparkinsonismo. Spesso sono presenti scoliosi, scapole alate, spalle rialzate, velocizzazione dei riflessi e risposte plantari in estensione."},"nl":{"name":"Hemiparkinsonisme-hemiatrofie-syndroom","synonyms":["HP-HA-syndroom"],"definition":"Hemiparkinsonisme - hemiatrofie-syndroom is een zeldzame parkinsoniaanse stoornis die gekarakteriseerd wordt door unilaterale atrofie van het lichaam en traag progressieve, ipsilaterale, hemiparkinsoniaanse kenmerken (bradykinesie, stijfheid, en tremor). Patiënten vertonen doorgaans unilaterale, actie-geïnduceerde dystonie in de bovenste of onderste ledematen, die evolueert en bilateraal wordt, of tremor die vooral bij rust voorkomt en evolueert tot hemiparkinsonisme. Vaak zijn scoliose, afstaande schouderbladen, verhoogde schouder, snelle reflexen en afwijkende voetzoolreflexen geassocieerd."},"pt":{"name":"Síndrome hemiatrofia-hemiparkinsonismo"},"pl":{"name":"Zespół hemiparkinsonizm-hemiatrofia","synonyms":["Zespół HP-HA"]},"cs":{"name":"Syndrom zahrnující hemiparkinsonismus a hemiatrofii","synonyms":["HP-HA syndrom"]},"uk":{"name":"Синдром геміпаркінсонізму-геміатрофії","synonyms":["Синдром HP-HA"],"definition":"Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated."},"zh":{"name":"偏侧帕金森综合征","synonyms":["偏侧帕金森综合征"],"definition":"偏侧帕金森征-偏侧萎缩综合征是一种罕见的帕金森综合征，以单侧躯体萎缩和缓慢进行性同侧帕金森症状（运动迟缓、僵硬和震颤）为特征。常表现为单侧动作诱发的上肢或下肢肌张力障碍，并逐渐进展为双侧或其他部位的震颤至偏侧帕金森综合征。常与脊柱侧弯，翼状肩胛，肩抬高，反射和足底伸肌反射活跃相关。"},"tr":{"name":"Hemiparkinsonizm-hemiatrofi sendromu","synonyms":["HP-HA sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"193784690"},{"source":"MONDO","code":"0017636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4545231","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":307055,"name":"Rare parkinsonian syndrome due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23986429[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":68.0,"area":"Worldwide","status":"Validated","source":"23986429[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-28","source":"21361726[PMID]_17938368[PMID]","terms":[{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100556","label":"Hemiatrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011331","label":"Hemifacial atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100308","label":"Cerebral cortical hemiatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}