{"orpha":211037,"name":"Autosomal dominant proximal spinal muscular atrophy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-211037/","orphanet_url":"https://www.orpha.net/en/disease/detail/211037","names":{"fr":{"name":"Amyotrophie spinale proximale autosomique dominante","definition":"Groupe de maladies génétiques rares du motoneurone caractérisées par l'apparition progressive, pendant l'enfance ou à l'âge adulte, d'une fonte et d'une faiblesse musculaires, principalement proximales. Parmi ces maladies figurent l'amyotrophie spinale proximale autosomique dominante de l'adulte, le syndrome du motoneurone inférieur, forme tardive de l'adulte et l'amyotrophie spinale proximale autosomique dominante de l'enfance."},"de":{"name":"Spinale Muskelatrophie, proximale, autosomal-dominante","definition":"Eine Gruppe seltener, genetisch bedingter Motoneuronenerkrankungen, die durch fortschreitende, vorwiegend proximale Muskelschwäche und Muskelschwund im Kindes- oder Erwachsenenalter gekennzeichnet sind. Dazu gehören die autosomal-dominante proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, das Syndrom der unteren Motoneuronen mit spätem Beginn im Erwachsenenalter und die autosomal-dominante proximale spinale Muskelatrophie mit Beginn im Kindesalter."},"es":{"name":"Atrofia muscular espinal proximal autosómica dominante","definition":"Es un grupo de enfermedades de la motoneurona, de origen genético y poco frecuente, caracterizado por debilidad muscular progresiva, predominantemente proximal, de inicio en la infancia o en la edad adulta, y atrofia. Las enfermedades incluidas en este grupo son la atrofia muscular espinal proximal autosómica dominante de inicio en el adulto, el síndrome de la motoneurona inferior de inicio tardío en el adulto y la atrofia muscular espinal proximal autosómica dominante de inicio en la infancia."},"it":{"name":"Atrofia muscolare spinale prossimale, autosomica dominante","definition":"Si tratta di un gruppo di malattie genetiche rare dei motoneuroni, che esordiscono nell'infanzia o nell'età adulta con debolezza e atrofia muscolare prevalentemente prossimali. Il gruppo comprende l'atrofia muscolare spinale prossimale autosomica dominante ad esordio nell'età adulta, la sindrome dei motoneuroni inferiori ad esordio tardivo nell'età adulta e l'atrofia muscolare spinale prossimale autosomica dominante ad esordio infantile."},"nl":{"name":"Autosomale dominante proximale spinale spieratrofie","synonyms":["Autosomale dominante proximale spinale musculaire atrofie"],"definition":"Een groep van zeldzame, genetische motorneuronziekten, gekenmerkt door aanvang in de kindertijd of volwassenheid van progressieve, hoofdzakelijk proximale, spierzwakte en -atrofie. Ziekten inbegrepen in deze groep zijn onder meer autosomaal dominante proximale spinale musculaire atrofie met aanvang in de volwassenheid, syndroom van lagere motorneuronen met aanvang in de late volwassenheid, en autosomaal dominante proximale spinale musculaire atrofie met aanvang in de kindertijd."},"pt":{"name":"Atrofia muscular espinhal proximal autossómica dominante"},"pl":{"name":"Autosomalny dominujący proksymalny rdzeniowy zanik mięśni"},"cs":{"name":"Autozomálně dominantní proximální spinální svalová atrofie"},"uk":{"name":"Аутосомно-домінантна проксимальна спінальна мязова атрофія","definition":"A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy."},"zh":{"name":"常染色体显性遗传近端脊髓性肌萎缩"},"tr":{"name":"Otozomal dominant proksimal spinal kas atrofisi"}},"xrefs":[{"source":"MONDO","code":"16224","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680856","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":[{"orpha":209335,"name":"Autosomal dominant adult-onset proximal spinal muscular atrophy","type":"Disease"},{"orpha":363447,"name":"Autosomal dominant childhood-onset proximal spinal muscular atrophy","type":"Disease"},{"orpha":276435,"name":"Lower motor neuron syndrome with late-adult onset","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}