{"orpha":397755,"name":"Periodic paralysis with transient compartment-like syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397755/","orphanet_url":"https://www.orpha.net/en/disease/detail/397755","names":{"fr":{"name":"Paralysie périodique avec pseudo-syndrome des loges transitoire","definition":"Maladie neuromusculaire génétique rare caractérisée par des épisodes de crampes musculaires douloureuses avec normokaliémie, suivis d'une faiblesse progressive et permanent dite « flasque », déclenchés par le stress, le froid et l'effort physique et associés à une myopathie et à un oedème aigu douloureux avec compression neuronale, pied tombant et dégénérescence musculaire lorsque l'atteinte touche plusieurs muscles du groupe comprenant le muscle tibial antérieur."},"de":{"name":"Periodische Paralyse mit transienten Kompartment-ähnlichem Syndrom"},"es":{"name":"Parálisis periódica con síndrome similar al compartimental transitorio","definition":"La parálisis periódica con síndrome similar al compartimental transitorio, es una enfermedad neuromuscular, genética y poco frecuente, caracterizada por episodios normokalémicos de calambres musculares dolorosos seguidos de debilidad flácida, progresiva y permanente, desencadenada por estrés, frío y ejercicio, asociada a miopatía miopática y edema agudo doloroso con compresión neuronal, pie caído y degeneración muscular cuando se localiza en el grupo muscular anterior tibial."},"it":{"name":"Paralisi periodica con sindrome transitoria simil-compartimentale","definition":"La paralisi periodica associata alla sindrome transitoria simil-compartimentale è una malattia neuromuscolare genetica rara, caratterizzata da crampi muscolari dolorosi episodici normokaliemici, seguiti da debolezza flaccida progressiva permanente, scatenati dello stress, dal freddo e dall'esercizio fisico, associati a miopatia miopatica ed edema acuto doloroso con compressione neuronale, piede cadente e degenerazione dei muscoli quando si localizza nel muscolo tibiale anteriore."},"nl":{"name":"Periodieke paralyse met voorbijgaand compartimentachtig syndroom","definition":"Periodieke verlamming met voorbijgaand compartiment-achtig syndroom is een zeldzame, genetische neuromusculaire ziekte die gekarakteriseerd wordt door normokaliëmische episodes van pijnlijke spierkrampen gevolgd door progressieve, permanente, slappe zwakte, uitgelokt door stress, koude en inspanning, en geassocieerd met myopathische myopathie en pijnlijk acuut oedeem met neuronale compressie, klapvoet en spierdegeneratie wanneer de spiergroep vooraan aan het scheenbeen getroffen wordt."},"pt":{"name":"Paralisia periódica com síndrome compartimental -like transitória"},"pl":{"name":"Porażenie okresowe z przemijającym zespołem podobnym do zespołu ciasnoty","definition":"*Porażenie okresowe z przemijającym zespołem podobnym do zespołu ciasnoty jest rzadką, genetycznie uwarunkowaną chorobą nerwowo-mięśniową, która charakteryzuje się epizodami bolesnych skurczów mięśni przy prawidłowym stężeniu potasu, po których następuje postępujące, trwałe, wiotkie osłabienie, wywołane przez stres, działanie zimna i wysiłek fizyczny. Towarzyszy miopatia i bolesny ostry obrzęk z uciskiem nerwów, opadanie stopy i zwyrodnienie mięśni grupy piszczelowej przedniej.inf brsup"},"cs":{"name":"Periodická paralýza s tranzientním compartment-like syndromem"},"uk":{"name":"Періодичний параліч з транзиторним куперозним синдромом","definition":"A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group."},"zh":{"name":"周期性麻痹伴短暂间隔室样综合征","definition":"周期性麻痹伴一过性间隔室综合征是一种罕见的遗传性神经肌肉疾病，其特征是正常血钾的痛性肌肉痉挛发作，随后出现进行性永久性肌无力，可由应激、寒冷和运动引起，当发生在胫骨前肌群时可有肌病性肌病和痛性急性水肿，并伴有神经压迫、足下垂和肌肉退行性变。"},"tr":{"name":"Geçici kompartman-benzeri sendromu ile seyreden periyodik paraliz"}},"xrefs":[{"source":"ICD-10","code":"G72.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018344","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751572","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371433,"name":"Genetic periodic paralysis","classifications":[156]},{"orpha":98740,"name":"Neurological muscular channelopathy due to a genetic calcium channel defect","classifications":[156,181]},{"orpha":206976,"name":"Periodic paralysis","classifications":[181]}],"children":[],"genes":[{"symbol":"CACNA1S","name":"calcium voltage-gated channel subunit alpha1 S","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24240197[PMID]","hgnc":"1397","ensembl":"ENSG00000081248","omim":"114208","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24240197[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24240197[PMID]"}],"phenotypes":null}