{"orpha":431255,"name":"Scapuloperoneal spinal muscular atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neurogenic scapuloperoneal amyotrophy, New England type","SPSMA","Scapuloperoneal neuronopathy"],"definition":"A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-431255/","orphanet_url":"https://www.orpha.net/en/disease/detail/431255","names":{"fr":{"name":"Amyotrophie spinale scapulopéronière","synonyms":["Amyotrophie scapulopéronière d'origine neurogène type New England","Neuronopathie scapulopéronière","SPSMA"],"definition":"Maladie génétique rare du motoneurone caractérisée par une neuropathie périphérique axonale à prédominance motrice se manifestant par une atrophie et une faiblesse musculaires scapulopéronières progressives, une paralysie laryngée, une absence congénitale de muscles et, chez certains, des anomalies squelettiques."},"de":{"name":"Muskelatrophie, scapuloperoneale spinale","synonyms":["Neurogene scapuloperoneale Amyotrophie vom New England Typ","Neuropathie, scapulo-peroneale","SPSMA"],"definition":"Eine seltene, genetisch bedingte Motoneuronenerkrankung, die durch eine vorwiegend motorische axonale periphere Neuropathie gekennzeichnet ist, die sich durch eine fortschreitende skapuloperoneale Muskelatrophie und -schwäche, Kehlkopflähmung, kongenitales Fehlen von Muskeln und in einigen Fällen durch Skelettanomalien manifestiert."},"es":{"name":"Atrofia muscular espinal escapuloperoneal","synonyms":["Amiotrofia neurogénica escapuloperoneal tipo Nueva Inglaterra","Neuropatía escapuloperoneal","SPSMA"],"definition":"Es una enfermedad genética y poco frecuente de la motoneurona caracterizada predominantemente por una neuropatía axonal motora periférica que se manifiesta con atrofia y debilidad muscular escapuloperoneal progresiva, parálisis laríngea, ausencia congénita de músculos y, en algunos casos, anomalías esqueléticas."},"it":{"name":"Atrofia muscolare spinale scapolo-peroneale","synonyms":["Amiotrofia scapolo-peroneale neurogena, tipo New England","Neuropatia scapolo-peroneale","SPSMA"],"definition":"L'atrofia muscolare spinale scapolo-peroneale (SPSMA) è una malattia genetica rara dei motoneuroni, caratterizzata da neuropatia periferica assonale prevalentemente motoria, che esordisce con atrofia e debolezza muscolare scapolo-peroneale progressiva, paralisi laringea, aplasia congenita dei muscoli e, in alcuni pazienti, anomalie scheletriche."},"nl":{"name":"Scapuloperoneale spinale spieratrofie","synonyms":["Neurogene scapuloperoneale amyotrofie, New England-type","SPSMA","Scapuloperoneale neuropathie"],"definition":"Een zeldzame, genetische motorneuronziekte gekarakteriseerd door overwegend motorische axonale perifere neuropathie, die zich manifesteert met progressieve zwakte en atrofie van scapuloperoneale spieren, larynxparalyse, congenitale afwezigheid van spieren, en, bij sommigen, skeletanomalieën."},"pt":{"name":"Atrofia muscular escapulo-peroneal espinhal"},"pl":{"name":"Łopatkowo-strzałkowy rdzeniowy zanik mięśni","synonyms":["Neurogenna amiotrofia łopatkowo-strzałkowa, typ N England","Neuronopatia łopatkowo-strzałkowa","SPSMA"]},"cs":{"name":"Skapuloperoneální spinální svalová atrofie","synonyms":["Neurogenní skapuloperoneální amyotrofie, typ Nová Anglie","SPSMA","Skapuloperoneální neuronopatie"]},"uk":{"name":"Атрофія мязів лопатково-підлопаткової ділянки хребта","synonyms":["Нейрогенна скапулоперонеальна аміотрофія, новоанглійський тип","Скапулоперонеальна нейронопатія","SPSMA"],"definition":"A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities."},"zh":{"name":"肩胛腓骨部脊髓性肌萎缩","synonyms":["新英格兰型神经源性肩胛腓骨部肌萎缩"],"definition":"一种罕见的遗传性运动神经元疾病，即周围神经系统运动性神经元轴突疾病，表现为进行性肩胛腓骨肌萎缩和肌无力，喉部瘫痪，先天性肌肉缺失，在某些情况下还合并骨骼异常。"},"tr":{"name":"Skapuloperoneal spinal müsküler atrofi","synonyms":["SPSMA","Skapuloperoneal nöronopati","Nörojenik skapuloperoneal amyotrofi, New England tipi"]}},"xrefs":[{"source":"OMIM","code":"181405","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8B61.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"223435672"},{"source":"MONDO","code":"0008408","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751335","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10314","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98505,"name":"Genetic motor neuron disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TRPV4","name":"transient receptor potential cation channel subfamily V member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20037587[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":31.0,"area":"Worldwide","status":"Validated","source":"26948711[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26948711[PMID]"}],"phenotypes":null}