{"orpha":2901,"name":"Neuralgic amyotrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acute brachial plexus neuritis","Brachial plexus neuritis","Immune brachial plexus neuropathy","Mononeuritis multiplex with brachial predilection","Neuralgic shoulder amyotrophy"],"definition":"A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2901/","orphanet_url":"https://www.orpha.net/en/disease/detail/2901","names":{"fr":{"name":"Amyotrophie névralgique","synonyms":["Amyotrophie névralgique de l'épaule","Neuropathie immune du plexus brachial","Névrite aiguë du plexus brachial","Névrite du plexus brachial"],"definition":"Maladie rare du système nerveux périphérique caractérisée par l'apparition soudaine d'une douleur extrême dans les membres supérieurs suivie d'une faiblesse motrice multifocale rapide et d'une atrophie, avec une récupération lente sur plusieurs mois. Elle comprend une forme idiopathique (aussi appelée syndrome de Parsonage-Turner, SPT) et une forme héréditaire (amyotrophie névralgique héréditaire)."},"de":{"name":"Neuralgische Amyotrophie","synonyms":["Armplexusneuritis","Brachial-Plexus-Neuropathie, autoimmune","Brachialplexitis, akute","Neuralgische Schultermyatrophie","Schultergürtel-Syndrom"],"definition":"Eine seltene Störung des peripheren Nervensystems mit plötzlich einsetzenden extremen Schmerzen in den oberen Extremitäten und schnell folgender multifokaler Muskelschwäche und -atrophie. Danach setzt langsam, über mehrere Monate oder Jahre, die Erholung ein. Die Neuralgische Amyotrophie (NA) umfasst eine idiopathische (INA, auch als Parsonage-Turner-Syndrom bezeichnet) und eine erbliche (HNA) Form."},"es":{"name":"Amiotrofia neurálgica","synonyms":["Amiotrofia neurálgica del hombro","Mononeuritis múltiple con predilección braquial","Neuritis aguda del plexo braquial","Neuritis del plexo braquial","Neuropatía inmunitaria del plexo braquial"],"definition":"Es un trastorno poco frecuente del sistema nervioso periférico caracterizado por la repentina aparición de un dolor intenso en el miembro superior seguido de una debilidad y atrofia multifocal súbitas y una lenta recuperación durante meses o años. La NA incluye la forma idiopática (NAI, también conocida como síndrome de Parsonage-Turner) y la hereditaria (NAH)."},"it":{"name":"Amiotrofia nevralgica","synonyms":["Amiotrofia nevralgica della spalla","Mononeurite multipla con predilezione brachiale","Neurite acuta del plesso brachiale","Neurite da siero","Neurite del plesso brachiale","Neuropatia immune del plesso brachiale","Scapola alata"],"definition":"L'amiotrofia nevralgica (NA) è una malattia rara del sistema nervoso periferico, con comparsa improvvisa di dolore acuto agli arti superiori, seguito da rapida debolezza, atrofia motoria multifocale e lenta remissione, che può durare mesi-anni. Ha una forma idiopatica (INA o sindrome di Parsonage-Turner) e una ereditaria (HNA)."},"nl":{"name":"Neuralgische amyotrofie","synonyms":["Acute brachiale plexus neuritis","Brachiale plexus neuritis","Immune plexus brachialis neuropathie","Mononeuritis multiplex met brachiale predilectie","Neuralgische schouderamyotrofie"],"definition":"Een zeldzame aandoening van perifeer zenuwstelsel, gekenmerkt door plots optredende extreme pijn in bovenste extremiteiten, snel gevolgd door multifocale spierzwakte en -atrofie. Daarna is er gedurende meerdere maanden tot jaren een langzaam herstel. NA omvat zowel een idiopathische (INA, ook gekend als syndroom van Parsonage-Turner) als een erfelijke (HNA) vorm."},"pt":{"name":"Amiotrofia neurálgica","synonyms":["Amiotrofia neurálgica do ombro"]},"pl":{"name":"Neuralgia amiotroficzna","synonyms":["Zapalenie splotu ramiennego","Amiotroficzna neuralgia ramienia","Ostre zapalenie splotu ramiennego","Immunologiczna neuropatia splotu ramiennego","Mnogie zapalenie pojedynczych nerwów z predylekcją do splotu ramiennego"]},"cs":{"name":"Neuralgická amyotrofie brachiálního plexu","synonyms":["Akutní neuritida brachiálního plexu","Neuritida plexus brachialis","Neuralgická amyotrofie ramene","Scapula alata","Imunitně podmíněná neuropatie plexus brachialis","Mnohočetná mononeuropatie s brachiální predilekcí"]},"uk":{"name":"Невралгічна аміотрофія","synonyms":["Гострий неврит плечового сплетіння","Неврит плечового сплетення","Імунна нейропатія плечового сплетіння","Мультиплексний мононеврит з ураженням плечового суглоба","Невралгічна аміотрофія плеча"],"definition":"A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form."},"zh":{"name":"神经痛性肌萎缩","synonyms":["单神经炎复合征伴上臂偏斜"]},"tr":{"name":"Nevraljik amyotrofi","synonyms":["Brakiyal pleksus nevriti","Nevraljik omuz amiyotrofisi","Akut brakiyal pleksus nevrit","İmmun brakiyal pleksus nöropatisi","Brakiyal tercihli mononevrit multipleks"]}},"xrefs":[{"source":"OMIM","code":"162100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G54.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8B91.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"302246011"},{"source":"MONDO","code":"0017362","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1510479","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4228","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":182086,"name":"Acquired peripheral neuropathy","classifications":[181]}],"children":[],"genes":[{"symbol":"SEPTIN9","name":"septin 9","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":null,"hgnc":"7323","ensembl":"ENSG00000184640","omim":"604061","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.64,"area":"United States","status":"Validated","source":"2996415[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"United Kingdom","status":"Validated","source":"10733998[PMID]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"United Kingdom","status":"Validated","source":"10733998[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-05","source":"20301569[PMID]_32487526[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012513","label":"Upper limb pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033748","label":"Hypoesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}