{"orpha":3198,"name":"Stiff person spectrum disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Moersch-Woltman syndrome","SMS","SPS","Stiff man spectrum disorder"],"definition":"A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia related to walking, an exaggerated startle response, and often ankylosing deformities such as fixed lumbar hyperlordosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3198/","orphanet_url":"https://www.orpha.net/en/disease/detail/3198","names":{"fr":{"name":"Spectre du syndrome de la personne raide","synonyms":["SHR","SPR","Spectre du syndrome de l'homme raide","Syndrome de Moersch-Woltman"],"definition":"Maladie neurologique rare caractérisée par une raideur fluctuante du tronc et des membres, des spasmes musculaires douloureux, une phobie associée à la réalisation de certaines tâches en lien avec la marche, une tendance à sursauter de façon exagérée et souvent des déformations ankylosantes, telles qu'une posture lombaire figée en hyperlordose."},"de":{"name":"Stiff-person-Spektrum-Störung","synonyms":["Moersch-Woltman-Syndrom","SMS","SPS","SPSD","Stiff man-Spektrum-Erkrankungen","Stiff-man-Syndrom"],"definition":"Eine seltene neurologische Störung mit fluktuierender Rumpf- und Gliedmaßensteifigkeit, schmerzhaften Muskelkrämpfen, aufgabenspezifischer Phobie im Zusammenhang mit dem Gehen, einer übertriebenen Schreckreaktion und häufig ankylosierenden Fehlbildungen wie einer fixierten lumbalen Hyperlordose."},"es":{"name":"Trastorno del espectro de la persona rígida","synonyms":["SPS","Síndrome de Moersch-Woltman","Trastorno del espectro del hombre rígido"],"definition":"Es un trastorno neurológico poco frecuente caracterizado por rigidez fluctuante del tronco y de las extremidades, espasmos musculares dolorosos, ambulofobia, una respuesta exagerada al sobresalto y, con frecuencia, deformidades anquilosantes como la hiperlordosis lumbar fija."},"it":{"name":"Spettro della malattia della persona rigida","synonyms":["SPS","SMS","Spettro della malattia dell'uomo rigido","Sindrome di Moersch-Woltman"]},"nl":{"name":"Stiff person-spectrumstoornis","synonyms":["SMS","SPS","Stiff man-spectrumstoornis","Syndroom van Moersch-Woltman"],"definition":"Een zeldzame neurologische aandoening, gekenmerkt door fluctuerende stijfheid van romp en ledematen, pijnlijke spierspasmen, fobie voor specifieke taken gerelateerd aan lopen, een overdreven schrikrespons, en vaak ankyloserende misvormingen zoals gefixeerde lumbale hyperlordose."},"pt":{"name":"Espectro clínico de pessoa-rígida","synonyms":["Espectro clínico de stiff man","SMS","SPS","Síndrome Moersch-Woltman"],"definition":"Patologia neurológica rara que compreende rigidez flutuante do tronco e dos membros, espasmos musculares dolorosos, fobia específica de tarefa relacionada com a marcha, uma resposta de sobressalto exagerada e, frequentemente, deformidades anquilosantes, como hiperlordose lombar fixa."},"pl":{"name":"Zespół sztywności uogólnionej i zaburzeń pokrewnych","synonyms":["SPS","Zespół Moerscha i Woltmana","Zespół sztywności uogólnionej"]},"cs":{"name":"Stiff person syndrom a jeho varianty","synonyms":["SMS","SPS","Syndrom stiff-man","Moerschův-Woltmannův syndrom","Moersch-Woltmannův syndrom"]},"uk":{"name":"Розлад спектру синдрому ригідної людини","synonyms":["Синдром Мерша-Вольтмана","SMS","SPS","Синдром закляклої людини"],"definition":"A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia related to walking, an exaggerated startle response, and often ankylosing deformities such as fixed lumbar hyperlordosis."},"zh":{"name":"僵人综合征","synonyms":["Moersch-Woltman综合征"]},"tr":{"name":"Stiff person spektrum bozukluğu","synonyms":["SMS","SPS","Stiff man sendromu","Moersch-Woltman sendromu"]}},"xrefs":[{"source":"OMIM","code":"184850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8E4A.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"771780430"},{"source":"MONDO","code":"0008491","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8491","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085292","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5023","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":102003,"name":"Rare movement disorder","classifications":[181]},{"orpha":182064,"name":"Rare neuroinflammatory or neuroimmunological disease","classifications":[181]}],"children":[{"orpha":443192,"name":"Classic stiff person syndrome","type":"Clinical subtype"},{"orpha":443804,"name":"Focal stiff limb syndrome","type":"Clinical subtype"},{"orpha":438266,"name":"Progressive encephalomyelitis with rigidity and myoclonus","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"21921002[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"United Kingdom","status":"Validated","source":"21921002[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Tanzania, United Republic of","status":"Validated","source":"26316197[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-16","source":"37154293[PMID]_35717735[PMID]_33183848[PMID]_34313523[PMID]_26989571[PMID]_27756410[PMID]","terms":[{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000756","label":"Agoraphobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000002","label":"Anti-Amphiphysin antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000007","label":"Anti-DPPX antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000011","label":"Anti-GAD65 antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000012","label":"Anti-Gephyrin antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000014","label":"Anti-GlyR antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012894","label":"Paraspinal muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031825","label":"Freezing of gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Excluded (0%)","criteria":null}]}}