{"orpha":209335,"name":"Autosomal dominant adult-onset proximal spinal muscular atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant adult-onset proximal SMA","Autosomal dominant late-onset spinal muscular atrophy, Finkel type","Finkel disease","SMAFK"],"definition":"A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209335/","orphanet_url":"https://www.orpha.net/en/disease/detail/209335","names":{"fr":{"name":"Amyotrophie spinale proximale autosomique dominante de l'adulte","synonyms":["Maladie de Finkel","SMAFK"],"definition":"Maladie génétique rare du motoneurone caractérisée par l'apparition, à l'âge adulte, d'une faiblesse musculaire proximale à progression lente, avec fasciculations, amyotrophie, crampes et réflexes hypoactifs/absents, sans atteinte pyramidale ou bulbaire."},"de":{"name":"Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante","synonyms":["Finkel-Krankheit","Proximale SMA, autosomal-dominante, mit Beginn im Erwachsenenalter","SMAFK","Spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante, Typ Finkel"],"definition":"Eine seltene, genetisch bedingte Motoneuronenerkrankung, die durch eine im Erwachsenenalter langsam fortschreitende, proximale Muskelschwäche mit Faszikulationen, Amyotrophie, Krämpfen und fehlenden/hypoaktiven Reflexen gekennzeichnet ist, ohne Beteiligung des Bulbus oder der Pyramiden."},"es":{"name":"Atrofia muscular espinal proximal autosómica dominante de inicio en el adulto","synonyms":["AME proximal autosómica dominante de inicio en el adulto","Atrofia muscular espinal autosómica dominante tipo Finkel de inicio tardío","Enfermedad de Finkel","SMAFK"],"definition":"Es una enfermedad de la motoneurona , genética y poco frecuente, de inicio en la edad adulta caracterizada por debilidad muscular proximal lentamente progresiva con fasciculaciones, amiotrofia y calambres y reflejos ausentes / hipoactivos sin afectación bulbar o piramidal."},"it":{"name":"Atrofia muscolare spinale prossimale autosomica dominante ad esordio nell'età adulta","synonyms":["Malattia di Finkel"],"definition":"È una malattia genetica rara dei motoneuroni, che esordisce nell'età adulta con debolezza dei muscoli prossimali a progressione lenta, associata a fascicolazioni, amiotrofia, crampi e riflessi assenti/ipoattivi, in assenza di coinvolgimento bulbare o piramidale."},"nl":{"name":"Autosomaal dominante proximale spinale musculaire atrofie met aanvang bij volwassenen","synonyms":["Autosomaal dominante proximale SMA met aanvang bij volwassenen","Autosomaal dominante proximale spinale spieratrofie met aanvang bij volwassenen","Autosomaal dominante spinale musculaire atrofie met late aanvang, Finkel-type","SMAFK","Ziekte van Finkel"],"definition":"Een zeldzame, genetische motorneuronziekte die gekarakteriseerd wordt door aanvang in de volwassenheid van traag progressieve, proximale spierzwakte met fasciculaties, amyotrofie, krampen, en afwezige/hypoactieve reflexen, zonder bulbaire of piramidale betrokkenheid."},"pt":{"name":"Atrofia muscular espinhal proximal autossómica dominante de início no adulto"},"pl":{"name":"Proksymalny rdzeniowy zanik mięśni o początku w wieku dorosłym, autosomalny dominujący","synonyms":["Choroba Finkela"]},"cs":{"name":"Proximální spinální svalová atrofie nastupující v dospělosti, autozomálně dominantní","synonyms":["Finkelova nemoc"]},"uk":{"name":"Аутосомно-домінантна проксимальна спінальна мязова атрофія, що починається в дорослому віці","synonyms":["Аутосомно-домінантний проксимальний СМА, що починається у дорослому віці","Аутосомно-домінантна пізня спінальна мязова атрофія, тип Фінкеля","Хвороба Фінкеля","SMAFK"],"definition":"A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement."},"zh":{"name":"常染色体显性遗传成人起病的近端脊髓性肌萎缩症","synonyms":["常染色体显性遗传迟发性脊髓性肌萎缩症Finkel型"],"definition":"成人起病常染色体显性遗传性近端脊髓性肌萎缩症一种罕见的遗传性运动神经元疾病，其主要临床表现为缓慢进行性肢体近端肌无力，伴肌束颤动、肌萎缩、痉挛和反射减弱或消失，不累及延髓和脊椎，发病年龄多在成人期。"},"tr":{"name":"Otozomal dominant yetişkin başlangıçlı proksimal spinal musküler atrofi","synonyms":["SMAFK","Finkel hastalığı","Otozomal baskın erişkin başlangıçlı proksimal SMA","Otozomal baskın geç başlangıçlı spinal müsküler atrofi, Finkel tipi"]}},"xrefs":[{"source":"OMIM","code":"182980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B61.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"718043342"},{"source":"MONDO","code":"0008453","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566673","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854058","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":211037,"name":"Autosomal dominant proximal spinal muscular atrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"VAPB","name":"VAMP associated protein B and C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15372378[PMID]_24212516[PMID]","hgnc":"12649","ensembl":"ENSG00000124164","omim":"605704","loci":["20q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-03-06","source":"1578236[PMID]_7258225[PMID]_15372378[PMID]_","terms":[{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Excluded (0%)","criteria":null}]}}