{"orpha":99965,"name":"O'Sullivan-McLeod syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99965/","orphanet_url":"https://www.orpha.net/en/disease/detail/99965","names":{"fr":{"name":"Syndrome d'O'Sullivan-McLeod","definition":"Le syndrome d'O'Sullivan-McLeod est un trouble bénin des motoneurones inférieurs et une variante rare de l'amyotrophie monomélique caractérisé par une faiblesse unilatérale initiale dans les muscles intrinsèques des mains qui finit par s'étendre aux membres opposés (avec une distribution asymétrique), associé à une atrophie musculaire de progression très lente sur plus de 20 ans."},"de":{"name":"O'Sullivan-McLeod-Syndrom","definition":"Eine seltene erworbene Motoneuronerkrankung, die durch eine anfängliche einseitige Schwäche der intrinsischen Handmuskulatur gekennzeichnet ist, die sich schließlich auf die gegenüberliegende Extremität ausbreitet (mit einer asymmetrischen Verteilung) und über einen Zeitraum von 20 Jahren eine sehr langsame fortschreitende Muskelatrophie nach sich zieht."},"es":{"name":"Síndrome de O'Sullivan-McLeod","definition":"Es una enfermedad rara adquirida de la neurona motora, que se caracteriza por una debilidad unilateral inicial en los músculos intrínsecos de la mano que finalmente se extiende al miembro opuesto (con una distribución asimétrica) y que tiene una progresión muy lenta de la atrofia muscular durante un periodo de 20 años"},"it":{"name":"Sindrome di O'Sullivan-McLeod","definition":"La sindrome di O'Sullivan McLeod è una malattia benigna dei motoneuroni, una variante rara dell'amiotrofia monomelica (MA; si veda questo termine), caratterizzata da un'iniziale debolezza monolaterale nei muscoli intrinseci della mano, che si estende poi all'arto opposto (con una distribuzione asimmetrica) e da un'atrofia muscolare a progressione molto lenta, in un arco temporale di oltre 20 anni."},"nl":{"name":"Syndroom van O'Sullivan-McLeod","definition":"Een zeldzame verworven motorneuronziekte, gekenmerkt door een initieel unilaterale zwakte van intrinsieke handspieren die op termijn verspreidt naar de contralaterale ledemaat (met een asymmetrische distributie) en zeer trage progressie van spieratrofie over een periode van 20 jaar."},"pt":{"name":"Síndrome O'Sullivan-McLeod"},"pl":{"name":"Zespół O'Sullivana i McLeoda"},"cs":{"name":"O'Sullivanův-McLeodův syndrom","synonyms":["O'Sullivan-McLeodův syndrom"]},"uk":{"name":"Синдром ОСаллівана-МакЛеода","definition":"A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period."},"zh":{"name":"欧·沙利文-麦克劳德综合征","definition":"O‘Sullivan McLeod综合征是一种良性的下运动神经元疾病，罕见的单髓性肌萎缩症(MA；见该词条)，其特征是最初手内肌的单侧无力，最终扩散到对侧肢体(呈不对称分布)，并在20年内肌肉萎缩缓慢进展。"},"tr":{"name":"O'Sullivan-McLeod sendromu"}},"xrefs":[{"source":"ICD-10","code":"G12.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2721741","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069682","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98506,"name":"Acquired motor neuron disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"30409480[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30409480[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-01","source":"17443046[PMID]_30409480[PMID]","terms":[{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031372","label":"Cold paresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040272","label":"Hyperintensity of MRI T2 signal of the spinal cord","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Excluded (0%)","criteria":null}]}}