{"orpha":90117,"name":"Hereditary motor and sensory neuropathy, Okinawa type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HMSNP","Hereditary motor and sensory neuropathy, proximal type"],"definition":"Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90117/","orphanet_url":"https://www.orpha.net/en/disease/detail/90117","names":{"fr":{"name":"Neuropathie sensitivo-motrice héréditaire type Okinawa","synonyms":["Neuropathie sensitivo-motrice proximale familiale"],"definition":"Une neuropathie génétique héréditaire rare, axonale, motrice et sensorielle. Elle se caractérise par la survenue à l'âge adulte d'une faiblesse et d'une atrophie musculaires surtout proximales, symétriques et lentement progressives, par des crampes musculaires douloureuses, des fasciculations et une atteinte sensorielle distale, affectant surtout (mais pas exclusivement) des individus (et leurs descendants) issus de la région d'Okinawa au Japon. L'absence de réflexes tendineux profonds, des taux élevés de créatine kinase et un mode de transmission autosomique dominant sont aussi caractéristiques de la maladie."},"de":{"name":"Neuropathie, hereditäre motorisch-sensorische, Typ Okinawa","synonyms":["HMSNP","Neuropathie, hereditäre motorisch-sensorische, proximaler Typ"],"definition":"Die hereditäre motorische und sensorische Neuropathie vom Okinawa-Typ ist eine seltene, genetisch bedingte, axonale hereditäre motorische und sensorische Neuropathie, die im Erwachsenenalter durch langsam fortschreitende, symmetrische, proximal-dominante Muskelschwäche und -atrophie, schmerzhafte Muskelkrämpfe, Faszikulationen und distale sensorische Beeinträchtigungen gekennzeichnet ist und meist (aber nicht ausschließlich) bei Personen (und deren Nachkommen) aus der Region Okinawa in Japan auftritt. Fehlende tiefe Sehnenreflexe, erhöhte Kreatinkinasewerte und autosomal-dominanter Erbgang sind ebenfalls charakteristisch."},"es":{"name":"Neuropatía sensitivo-motora hereditaria, tipo Okinawa","synonyms":["HMSNP","Neuropatía hereditaria sensitivo-motora tipo proximal"],"definition":"La neuropatía hereditaria sensitivo-motora tipo Okinawa es una neuropatía genética hereditaria poco frecuente, sensitivo-motora axonal, caracterizada por un inicio en la edad adulta de debilidad y atrofia muscular proximal y simétrica progresivas, calambres musculares dolorosos, fasciculaciones y alteración sensitiva distal, principalmente (pero no exclusivamente) en individuos (y sus descendientes) de la región de Okinawa en Japón. También son características la ausencia de reflejos tendinosos profundos, niveles elevados de creatin kinasa y herencia autosómica dominante."},"it":{"name":"Neuropatia sensitivo-motoria ereditaria, tipo Okinawa","synonyms":["HMSNP","Neuropatia sensitivo-motoria ereditaria, tipo prossimale"],"definition":"La neuropatia sensitivo-motoria ereditaria tipo Okinawa è una neuropatia motoria e sensoriale assonale rara ed ereditaria, di origine genetica, che esordisce nell'età adulta con debolezza e atrofia muscolare prevalentemente prossimali, simmetriche, a progressione lenta, crampi muscolari dolorosi, fascicolazioni e deficit sensoriali distali, che colpiscono soprattutto (ma non esclusivamente) i soggetti provenienti dalla regione giapponese di Okinawa e la loro discendenza. Altri segni clinici caratteristici sono l'assenza dei riflessi tendinei profondi e i livelli elevati di creatina chinasi. La trasmissione è autosomica dominante."},"nl":{"name":"Hereditaire motorische en sensorische neuropathie, Okinawa-type","synonyms":["HMSNP","Hereditaire motorische en sensorische neuropathie, proximaal type"],"definition":"Erfelijke motorische en sensorische neuropathie, Okinawa-type is een zeldzame, genetische, axonale erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door aanvang in de volwassenheid van traag progressieve, symmetrische, proximale dominante spierzwakte en -atrofie, pijnlijke spierkrampen, fasciculaties en distale zintuiglijke stoornis, meestal (maar niet exclusief) in individuen (en hun nakomelingen) uit de regio van Okinawa in Japan. Afwezigheid van diepe peesreflexen, verhoogde gehaltes creatinekinase en autosomaal dominante overerving zijn ook kenmerkend."},"pt":{"name":"Neuropatia sensitiva e motora hereditária, tipo Okinawa"},"pl":{"name":"Dziedziczna neuropatia ruchowa i czuciowa typu Okinawy","synonyms":["Dziedziczna neuropatia ruchowa i czuciowa, typ proksymalny","HMSNP"]},"cs":{"name":"Hereditární motorická a senzorická neuropatie, typ Okinawa","synonyms":["HMSNP","Dědičná motorická a senzorická neuropatie, proximální typ"]},"uk":{"name":"Спадкова моторна та сенсорна нейропатія, тип Окінава","synonyms":["Спадкова моторна та сенсорна нейропатія, проксимальний тип","HMSNP"],"definition":"Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic."},"zh":{"name":"遗传性运动感觉神经病Okinawa型","synonyms":["遗传性运动感觉性神经病，近端型"]},"tr":{"name":"Kalıtsal motor ve duyusal nöropati, Okinawa tipi","synonyms":["HMSNP","Kalıtsal motor ve duyusal nöropati, proksimal tip"]}},"xrefs":[{"source":"OMIM","code":"604484","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1322593638"},{"source":"MONDO","code":"0011468","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858338","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10131","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140456,"name":"Autosomal dominant hereditary axonal motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TFG","name":"trafficking from ER to golgi regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22883144[PMID]","hgnc":"11758","ensembl":"ENSG00000114354","omim":"602498","loci":["3q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":120.0,"area":"Worldwide","status":"Validated","source":"22883144[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-10","source":"25725944[PMID]_29552439[PMID]","terms":[{"hpo":"HP:0030179","label":"Abnormal peripheral action potential amplitude","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030200","label":"Fatiguable weakness of proximal limb muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031910","label":"Abnormal cranial nerve physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030007","label":"EMG: positive sharp waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007289","label":"Limb fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010546","label":"Muscle fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011014","label":"Abnormal glucose homeostasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010827","label":"Abnormality of the seventh cranial nerve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410262","label":"Lower cranial nerve dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null}]}}