{"orpha":85162,"name":"Facial onset sensory and motor neuronopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FOSMN syndrome"],"definition":"Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85162/","orphanet_url":"https://www.orpha.net/en/disease/detail/85162","names":{"fr":{"name":"Neuronopathie motrice et sensorielle à début facial","synonyms":["Syndrome FOSMN"],"definition":"La neuropathie motrice et sensorielle à début facial se caractérise d'abord par une paresthésie et un engourdissement dans les zones innervées par le nerf trijumeau, qui s'étendent progressivement au cuir chevelu, au cou, au tronc supérieur, puis aux membres supérieurs. Les manifestations motrices, qui apparaissent plus tardivement, sont d'abord des crampes, des fasciculations, une dysphagie, une dysarthrie puis une atrophie et une faiblesse musculaire. Ce syndrome qui a été décrit chez quatre adultes de sexe masculin, est une pathologie neurodégénérative de progression lente."},"de":{"name":"Neuropathie, fazial beginnende, sensorische und motorische","synonyms":["FOSMN-Syndrom"],"definition":"Die Sensorische und motorische Neuropathie mit Beginn im Gesicht ist gekennzeichnet durch Paraesthesie und Gefühllosigkeit, anfangs im Ausbreitungsgebiet des Trigeminus, später auch auf der Kopfhaut, am Hals, oberer Körperhälfte und oberen Gliedmaßen. Noch später folgen motorische Symptome: Krämpfe, Faszikulieren, Dysphagie, Dysarthrie, Muskelschwäche und -atrophie. Es scheint sich um eine langsam progrediente neurodegenerative Erkrankung zu handeln."},"es":{"name":"Neuropatía sensitiva autonómica de inicio facial","synonyms":["Síndrome FOSMN"],"definition":"Es un trastorno caracterizado inicialmente por parestesia y entumecimiento en la región de distribución del nervio trigémino, que progresa hasta afectar al cuero cabelludo, cuello, parte superior del tronco y extremidades superiores. El inicio de las manifestaciones motoras ocurre posteriormente con calambres, fasciculaciones, disfagia, disartria, debilidad muscular y atrofia. Este síndrome se ha descrito en cuatro varones y parece ser una enfermedad neurodegenerativa lentamente progresiva."},"it":{"name":"Neuropatia sensitivo-motoria a esordio facciale","synonyms":["Sindrome FOSMN"]},"nl":{"name":"Sensorische en motorische neuropathie met faciale aanvang","synonyms":["FOSMN-syndroom"],"definition":"Sensorische en motorische neuropathie met faciale aanvang wordt initieel gekenmerkt door paresthesie en gevoelloosheid in het verzorgingsgebied van nervus trigeminus (drielingzenuw), met later progressie tot betrokkenheid van scalp, hals, bovenste deel van romp, en bovenste ledematen. Motorische manifestaties treden later op, zoals krampen, fasciculaties, dysfagie, dysartrie, spierzwakte en atrofie. Dit syndroom werd beschreven bij vier mannen, en lijkt een traag progressieve neurodegeneratieve ziekte te zijn."},"pt":{"name":"Neuronopatia sensitiva e motora de início na face"},"pl":{"name":"Neuropatia czuciowa i ruchowa rozpoczynająca się od twarzy","synonyms":["Zespół FOSMN"]},"cs":{"name":"Senzorická a motorická neuropatie počínající v obličeji","synonyms":["FOSMN syndrom"]},"uk":{"name":"Сенсорна та моторна нейронопатія, що починається з обличчя","synonyms":["Синдром FOSMN"],"definition":"Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease."},"zh":{"name":"面部首发型感觉和运动神经病","synonyms":["FOSMN综合征"]},"tr":{"name":"Yüz başlangıçlı duyusal ve motor nöronopati","synonyms":["FOSMN sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509818","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12036","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":47.0,"area":"Worldwide","status":"Validated","source":"29781209[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29781209[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"24643461[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null}]}}