{"orpha":443804,"name":"Focal stiff limb syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Focal stiff-person syndrome","Stiff leg syndrome"],"definition":"A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443804/","orphanet_url":"https://www.orpha.net/en/disease/detail/443804","names":{"fr":{"name":"Syndrome de la jambe raide","synonyms":["Syndrome des jambes raides"],"definition":"Syndrome rare faisant partie du spectre du syndrome de l'homme raide caractérisé par des spasmes épisodiques douloureux (souvent précipités par un contact, une douleur, le froid, le mouvement ou des émotions négatives), une sensibilité accrue aux stimuli, dont une hyperexplexie, ainsi que par une rigidité affectant un membre inférieur ou supérieur, à début généralement insidieux avec une évolution sur plusieurs mois ou plusieurs années. La maladie peut évoluer vers un syndrome classique de l'homme raide. La peur de sortir de chez soi et de marcher sans aide sont des caractéristiques classiques retrouvées chez les patients. La plupart d'entre eux ont des auto-anticorps dans le sérum et le liquide cérébrospinal, notamment des anticorps anti-glutamate décarboxylase. Dans de rares cas, le syndrome est d'origine paranéoplasique."},"de":{"name":"Fokales Stiff-Limb-Syndrom","synonyms":["Fokales Stiff-Person-Syndrom","Stiff-Leg-Syndrom"],"definition":"Eine seltene Störung aus dem Formenkreis der Stiff-person-Spektrum-Erkrankungen, die durch schmerzhafte episodische Spasmen (die oft durch Berührung, Schmerz, Kälte, Bewegung oder negative Emotionen ausgelöst werden), erhöhte Reizempfindlichkeit, einschließlich Hyperekplexie, sowie Steifheit in den unteren oder oberen Gliedmaßen gekennzeichnet ist.Typischerweise beginnt die Erkrankung schleichend und entwickelt sich über Monate oder Jahre. Der Zustand kann schließlich in ein klassisches Stiff-Person-Syndrom übergehen. Charakteristisch ist die Angst, das Haus zu verlassen und ohne fremde Hilfe zu gehen. Die meisten Patienten weisen Autoantikörper im Serum und im Liquor auf, insbesondere Anti-Glutaminsäure-Decarboxylase (GAD)-Antikörper. In seltenen Fällen hat das Syndrom einen paraneoplastischen Ursprung."},"es":{"name":"Síndrome de extremidad rígida focal","synonyms":["Síndrome de persona rígida focal","Síndrome de pierna rígida"],"definition":"Es un trastorno poco frecuente del espectro del síndrome de la persona rígida caracterizado por espasmos episódicos dolorosos (a menudo desencadenados por el tacto, el dolor, el frío, el movimiento o las emociones negativas), sensibilidad incrementada al estímulo, incluyendo hiperekplexia y rigidez en una extremidad superior o inferior, típicamente con inicio insidioso y progresión durante meses o años. La afección puede eventualmente progresar hasta convertirse en el clásico síndrome de la persona rígida. Es característico el miedo a salir de casa y a caminar sin ayudas. La mayoría de los pacientes presenta autoanticuerpos en suero y LCR, en particular anticuerpos anti-descarboxilasa del ácido glutámico (GAD). En casos excepcionales, el síndrome es de origen paraneoplásico."},"it":{"name":"Sindrome focale dell'arto rigido","synonyms":["Sindrome della gamba rigida","Sindrome focale della persona rigida"]},"nl":{"name":"Focaal stiff limb-syndroom","synonyms":["Focaal stiff person-syndroom","Stiff leg-syndroom","Stijf been-syndroom"],"definition":"Een zeldzame stiff person-spectrumstoornis, gekenmerkt door pijnlijke episodische spasmen (die vaak verergeren door aanraking, pijn, koude, beweging, of negatieve emoties), verhoogde gevoeligheid voor stimuli waaronder hyperekplexie, alsook stijfheid in een onderste of bovenste ledemaat, doorgaans met sluipende aanvang en progressie gedurende maanden of jaren. De aandoening kan uiteindelijk evolueren naar klassiek stiff person-syndroom. Angst om het huis te verlaten en zonder assistentie te lopen is kenmerkend. De meeste patiënten hebben auto-antilichamen in serum en cerebrospinaal vocht, vooral antilichamen tegen glutaminezuur-decarboxylase (GAD). In zeldzame gevallen is het syndroom paraneoplastisch van oorsprong."},"pt":{"name":"Síndrome focal de membro rígido","synonyms":["Síndrome da perna rígida","Síndrome focal de pessoa rígida"],"definition":"Doença do espectro da pessoa rígida, rara, caracterizado por espasmos episódicos dolorosos (que são frequentemente precipitados por toque, dor, frio, movimento ou emoções negativas), aumento da sensibilidade ao estímulo, incluindo hiperecplexia, bem como rigidez, num membro inferior ou superior, tipicamente com início insidioso e progressão ao longo de meses ou anos. A situação pode eventualmente progredir para a síndrome clássica da pessoa rígida. O medo de sair de casa e andar sem ajuda é característico. A maioria dos doentes tem autoanticorpos no soro e no LCR, em particular anticorpos anti-ácido glutâmico descarboxilase (GAD). Em casos raros, a síndrome é de origem paraneoplásica."},"pl":{"name":"Ogniskowy zespół sztywnej nogi","synonyms":["Ogniskowy zespół sztywności uogólnionej","Zespół sztywnej nogi"],"definition":"Rzadkie zaburzenie ze spektrum sztywnego człowieka, charakteryzujące się bolesnymi, epizodycznymi skurczami (często wywoływanymi przez dotyk, ból, zimno, ruch lub negatywne emocje), zwiększoną wrażliwością na bodźce, w tym wygórowaniem odruchów, a także sztywnością kończyn dolnych lub górnych, zazwyczaj o podstępnym początku i progresji na przestrzeni miesięcy lub lat. Stan ten może ostatecznie przekształcić się w klasyczny zespół sztywnego człowieka. Charakterystyczny jest strach przed opuszczaniem domu i chodzeniem bez pomocy. U większości pacjentów w surowicy i płynie mózgowo-rdzeniowym występują autoprzeciwciała, w szczególności przeciwko dekarboksylazie kwasu glutaminowego (GAD). W rzadkich przypadkach zespół ma podłoże paranowotworowe."},"cs":{"name":"Fokální syndrom ztuhlé končetiny","synonyms":["Fokální stiff-person syndrom","Syndrom ztuhlých nohou","Fokální syndrom ztuhlého těla"]},"uk":{"name":"Вогнищевий синдром ригідності кінцівок","synonyms":["Фокальний синдром скутості","Синдром затерплих ніг"],"definition":"A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin."},"zh":{"name":"局部肢体僵硬综合征","synonyms":["局部僵直综合征"]},"tr":{"name":"Fokal sert ekstremite sendromu","synonyms":["Sert bacak sendromu","Fokal katı kişi sendromu"]}},"xrefs":[{"source":"OMIM","code":"184850","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018629","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4324606","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079359","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"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-16","source":"35131796[PMID]_30363910[PMID]_32258231[PMID]_31804328[PMID]","terms":[{"hpo":"HP:0000756","label":"Agoraphobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025329","label":"Anti-glutamic acid decarboxylase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100283","label":"EMG: continuous motor unit activity at rest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000002","label":"Anti-Amphiphysin antibody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5000007","label":"Anti-DPPX antibody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5000012","label":"Anti-Gephyrin antibody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031825","label":"Freezing of gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Occasional (29-5%)","criteria":null}]}}