{"orpha":454706,"name":"Progressive muscular atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PMA"],"definition":"A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-454706/","orphanet_url":"https://www.orpha.net/en/disease/detail/454706","names":{"fr":{"name":"Atrophie musculaire progressive","synonyms":["AMP"],"definition":"Maladie rare du motoneurone caractérisée par des atteintes isolées du motoneurone inférieur, notamment une faiblesse flasque progressive, une atrophie musculaire, des fasciculations et une diminution, voire l'absence de réflexes tendineux. Elle se manifeste à la fin de l'âge adulte, les hommes étant plus souvent touchés que les femmes. Dans certains cas, les atteintes du motoneurone supérieur peuvent survenir plus tard. La survenue d'une insuffisance respiratoire détermine le pronostic. L'analyse neuropathologique met en évidence des corps de Bunina intraneuronaux et des inclusions positives pour l'ubiquiline."},"de":{"name":"Progressive Muskelatrophie","synonyms":["PMA"],"definition":"Eine seltene Motoneuronenerkrankung, die durch isolierte Merkmale der unteren Motoneuronen gekennzeichnet ist, einschließlich fortschreitender schlaffer Schwäche, Muskelschwund, Faszikulationen und verminderter oder fehlender Sehnenreflexe. Sie beginnt im späten Erwachsenenalter, wobei Männer häufiger betroffen sind als Frauen. Die Anzeichen der oberen Motoneuronen können sich in einigen Fällen später entwickeln. Das Auftreten einer respiratorischen Insuffizienz bestimmt die Prognose. Die neuropathologische Analyse zeigt intraneuronale Bunina-Körperchen und Ubiquitin-positive Einschlüsse."},"es":{"name":"Atrofia muscular progresiva","synonyms":["AMP"],"definition":"Es una enfermedad de la motoneurona poco frecuente caracterizada por hallazgos aislados de afectación de la motoneurona inferior, incluyendo debilidad flácida progresiva, atrofia muscular, fasciculaciones y reflejos osteotendinosos reducidos o ausentes. La enfermedad debuta en la edad adulta tardía, afectando con mayor frecuencia a los varones. En algunos casos, los signos de afectación de la motoneurona superior pueden desarrollarse más tarde. La aparición de la insuficiencia respiratoria es determinante en el pronóstico. El análisis neuropatológico muestra cuerpos de Bunina intraneuronales e inclusiones ubiquitina positivas."},"it":{"name":"Atrofia muscolare progressiva","synonyms":["PMA"],"definition":"Si tratta di una malattia rara dei motoneuroni, caratterizzata da sintomi isolati legati ai motoneuroni inferiori, che comprendono la debolezza flaccida progressiva, l'atrofia muscolare, le fascicolazioni e la riduzione o l'assenza dei riflessi tendinei. La malattia esordisce nella tarda età adulta e colpisce maggiormente i maschi. Successivamente, alcuni pazienti sviluppano sintomi legati ai motoneuroni superiori. L'eventuale insorgenza dell'insufficienza respiratoria condiziona la prognosi. Le analisi neuropatologiche mostrano corpi di Bunina intraneuronali e inclusioni positive per l'ubiquitina."},"nl":{"name":"Progressieve spieratrofie","synonyms":["PMA","Progressieve musculaire atrofie"],"definition":"Een zeldzame motorneuronziekte, gekarakteriseerd door geïsoleerde defecten aan lagere motorneuronen, waaronder progressieve hypotone zwakte, spieratrofie, fasciculaties, en verminderde of afwezige peesreflexen. De ziekte vangt aan in de late volwassenheid, en treft vaker mannen dan vrouwen. In sommige gevallen is het mogelijk dat symptomen van bovenste motorneuronen pas later ontwikkelen. Het voorkomen van respiratoire insufficiëntie bepaalt de prognose. Neuropathologische analyse toont intraneuronale Bunina-lichaampjes en ubiquitine-positieve inclusies."},"pt":{"name":"Atrofia muscular progressiva"},"pl":{"name":"Postępująca atrofia mięśniowa","synonyms":["PMA"]},"cs":{"name":"Progresivní svalová atrofie","synonyms":["PMA"]},"uk":{"name":"Прогресуюча мязова атрофія","synonyms":["PMA"],"definition":"A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions."},"zh":{"name":"进行性肌萎缩","synonyms":["PMA"],"definition":"一种罕见的运动神经元疾病，其特征是单发的下运动神经元特征，包括进行性弛缓性肌无力，肌肉萎缩，肌束震颤，腱反射减弱或缺失。发病年龄成年后期，男性比女性常见。在某些情况下，后期可出现上运动神经元体征。呼吸功能不全的发生决定了预后。神经病理学分析显示神经出现布尼纳体和泛素阳性包涵体。"},"tr":{"name":"İlerleyici kas atrofisi","synonyms":["PMA"]}},"xrefs":[{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B60.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1282359533"},{"source":"MONDO","code":"0018687","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0917981","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036808","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98503,"name":"Motor neuron disease","classifications":[181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[],"phenotypes":null}