{"orpha":438266,"name":"Progressive encephalomyelitis with rigidity and myoclonus","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PERM"],"definition":"A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438266/","orphanet_url":"https://www.orpha.net/en/disease/detail/438266","names":{"fr":{"name":"Encéphalomyélite progressive avec rigidité et myoclonies","synonyms":["PERM"],"definition":"Maladie rare du spectre du syndrome de l'homme raide caractérisée par une rigidité des membres et du tronc, des spasmes provoqués par un stimulus, des myoclonies, une hyperexplexie, une dysautonomie et une atteinte du tronc cérébral ou autres troubles neurologiques. La maladie est progressive et peut engager le pronostic vital, notamment en raison de l'insuffisance respiratoire. Elle peut être associée à la présence du récepteur de la glycine ou d'anticorps anti-glutamate décarboxylase, ainsi que de thymomes ou de lymphomes."},"de":{"name":"Progressive Enzephalomyelitis mit Rigidität und Myoklonus","synonyms":["PERM"],"definition":"Eine seltene Stiff-person-Spektrum-Erkrankung die durch Rigidität der Gliedmaßen und des Rumpfes, reizempfindliche Spasmen, Myoklonus, Hyperekplexie, autonome Störungen und Hirnstammbeteiligung oder andere neurologische Defekte gekennzeichnet ist. Der Zustand ist progressiv und potenziell lebensbedrohlich, insbesondere aufgrund von Atemversagen. Sie kann mit dem Vorhandensein von Glycinrezeptor- oder Glutaminsäure-Decarboxylase-Antikörpern sowie mit Thymomen oder Lymphomen in Verbindung gebracht werden."},"es":{"name":"Encefalomielitis progresiva con rigidez y mioclonías","definition":"Es un trastorno poco frecuente del espectro del síndrome de la persona rígida caracterizado por rigidez de las extremidades y del tronco en asociación con espasmos desencadenados por sensibilidad al estímulo, mioclonía, hiperekplexia, alteraciones autonómicas y afectación del tronco cerebral u otros defectos neurológicos. La enfermedad es progresiva y potencialmente mortal, especialmente debido a la insuficiencia respiratoria. Puede asociarse a la presencia de anticuerpos contra el receptor de glicina o anti- descarboxilasa del ácido glutámico, así como a timomas o linfomas."},"it":{"name":"Encefalomielite progressiva con rigidità e mioclono","synonyms":["PERM"],"definition":"Si tratta di una malattia rara che rientra nello spettro della sindrome della persona rigida, caratterizzata da rigidità degli arti e del tronco, spasmi indotti dallo stimolo, mioclono, iperecplessia, disturbi del sistema autonomo, coinvolgimento del tronco encefalico e altri difetti neurologici. La malattia è progressiva e potenzialmente letale, soprattutto a causa dell'insufficienza respiratoria. Può associarsi alla presenza di anticorpi diretti contro il recettore della glicina o contro la decarbossilasi dell'acido glutammico, così come di timomi o linfomi."},"nl":{"name":"Progressieve encefalomyelitis met rigiditeit en myoclonus","synonyms":["PERM"],"definition":"Een zeldzame aandoening van 'stiff person'-spectrumstoornis, gekenmerkt door rigiditeit van ledematen en romp, stimulusgevoelige spasmen, myoclonus, hyperekplexie, autonome stoornis, en betrokkenheid van hersenstam of andere neurologische defecten. De aandoening is progressief en potentieel levensbedreigend, vooral als gevolg van respiratoir falen. Het kan geassocieerd zijn met de aanwezigheid van antilichamen tegen glycinereceptor of glutaminezuur-decarboxylase, alsook thymomen of lymfomen."},"pt":{"name":"Encefalomielite progressiva com rigidez e mioclonias"},"pl":{"name":"Postępujące zapalenie mózgu i opon mózgowych ze sztywnością i miokloniami","synonyms":["PERM"]},"cs":{"name":"Progresivní encefalomyelitida s rigiditou a myoklonem","synonyms":["PERM"]},"uk":{"name":"Прогресуючий енцефаломієліт з ригідністю та міоклонією","synonyms":["PERM"],"definition":"A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas."},"zh":{"name":"进行性脑脊髓炎伴有强直及肌阵挛","synonyms":["PERM"]},"tr":{"name":"Sertlik ve miyoklonus ile seyreden ilerleyici ensefalomiyelit","synonyms":["PERM"]}},"xrefs":[{"source":"OMIM","code":"184850","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D82","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"491560664"},{"source":"MONDO","code":"0018581","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566113","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861457","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13110","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":3198,"name":"Stiff person spectrum disorder","classifications":[181,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}