{"orpha":447977,"name":"Progressive scapulohumeroperoneal distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447977/","orphanet_url":"https://www.orpha.net/en/disease/detail/447977","names":{"fr":{"name":"Myopathie distale scapulohuméropéronière progressive","definition":"Dystrophie musculaire génétique rare caractérisée par une faiblesse musculaire progressive dans la distribution scapulo-huméro-péronière et distale, avec une faiblesse des extenseurs du poignet, des pieds et des doigts tombants, une aile scapulaire, une légère faiblesse des muscles faciaux, des contractures du tendon d'Achille, du coude et de l'épaule, et des réflexes tendineux profonds diminués ou absents. Une prédilection pour les membres supérieures a été rapportée chez certains patients. Les muscles respiratoires ne sont pas affectés jusqu'à un stade avancé de la maladie. L'âge d'apparition, la progression et la sévérité de la maladie varient considérablement d'un individu à l'autre. La biopsie musculaire révèle des groupes de fibres atrophiques de type I et une augmentation du nombre de noyaux internes."},"de":{"name":"Progressive skapulo-humerale peroneale distale Myopathie","definition":"Eine genetisch bedingte Muskeldystrophie, die durch eine progressive Muskelschwäche in der skapulohumeroperonealen und distalen Verteilung gekennzeichnet ist, mit einer Schwäche der Handgelenksextensoren, der Finger- und Fußsenker, der Scapula alata, einer leichten Schwäche der Gesichtsmuskulatur, Kontrakturen der Achillessehne, des Ellenbogens und der Schulter sowie verminderten oder fehlenden tiefen Sehnenreflexen. Bei einigen Patienten sind vorwegend die oberen Extremitäten betroffen. Die Atemmuskulatur bleibt bis spät im Krankheitsverlauf verschont. Das Erkrankungsalter, der Verlauf und die Schwere der Erkrankung sind individuell sehr unterschiedlich. Die Muskelbiopsie zeigt atrophische Faserbündel vom Typ I und vergrößerte innere Kerne."},"es":{"name":"Miopatía escápulo-húmero-peroneal distal progresiva","definition":"Es una distrofia muscular de origen genético y poco frecuente caracterizada por debilidad muscular progresiva con una distribución escápulo-humero-peroneal y distal, con debilidad de los extensores de la muñeca, pie y dedos de la mano caídos, escápula alada, debilidad facial leve, contracturas en el tendón de Aquiles, el codo y el hombro, y disminución o ausencia de los reflejos osteotendinosos. En algunos pacientes se ha descrito una mayor afectación de las extremidades superiores. Los músculos respiratorios están conservados hasta el final del curso de la enfermedad. La edad de inicio, la progresión y gravedad de la enfermedad varían significativamente entre los pacientes. La biopsia muscular muestra grupos de fibras tipo I atróficas y un aumento de los núcleos internos."},"it":{"name":"Miopatia distale progressiva scapolo-omero-peroneale","definition":"Si tratta di una distrofia muscolare rara, di origine genetica, caratterizzata da debolezza muscolare progressiva con distribuzione scapolo-omero-peroneale e distale, associata a debolezza dei muscoli estensori del polso, dita e piedi cadenti, scapole alate, lieve debolezza facciale, contratture del tendine d'Achille, del gomito e delle spalle, e riduzione o assenza dei riflessi tendinei profondi. Alcuni pazienti presentano un interessamento più marcato degli arti superiori. I muscoli respiratori sono risparmiati fino alle fasi più avanzate della malattia. L'età d'esordio, la progressione e la gravità della malattia sono molto variabili. La biopsia muscolare mostra gruppi di fibre atrofiche di tipo I e un aumento dei nuclei interni."},"nl":{"name":"Progressieve scapulohumerale peroneale distale myopathie","definition":"Een zeldzame, genetische spierdystrofie, gekarakteriseerd door progressieve spierzwakte met een scapulo-humero-peroneale en distale distributie, gekenmerkt door zwakte van strekspieren van pols, hamervinger en klapvoet, afstaande schouderbladen, milde zwakte van aangezichtsspieren, contracturen van achillespees, elleboog en schouder, en verminderde of afwezige diepe peesreflexen. Bij sommige patiënten werd predilectie voor bovenste ledematen gerapporteerd. Ademhalingsspieren blijven gespaard tot laat in het ziekteverloop. Aanvangsleeftijd, progressie, en ernst van de ziekte variëren significant tussen individuen. Spierbiopsie toont groepen van atrofische type I vezels en verhoogd aantal interne nuclei."},"pt":{"name":"Miopatia escapulohumeral peroneal distal progressiva"},"pl":{"name":"Postępująca łopatkowo-ramienna dystalna miopatia strzałkowa"},"cs":{"name":"Progresivní skapulo-humero-peroneální distální myopatie"},"uk":{"name":"Прогресуюча лопатково-плечова дистальна міопатія","definition":"A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei."},"zh":{"name":"进行性近端肩胛肱腓型肌病","definition":"一种罕见的遗传性肌营养不良症，其特征是肩胛骨-肱骨-腓骨和远端分布处进行性肌无力，表现为腕部伸肌无力，手指和足下垂，翼状肩，轻度面部肌无力，跟腱、肘部和肩部挛缩，以及肌腱反射减弱或消失。上肢易受累。早期呼吸肌不会受累，病程晚期可能受累。个体的发病年龄，疾病进展和严重程度差异很大。肌肉活检显示出萎缩的I型纤维群和内核增加。"},"tr":{"name":"İlerleyici skapulohumeroperoneal distal miyopati"}},"xrefs":[{"source":"OMIM","code":"616852","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014800","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225181","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACTA1","name":"actin alpha 1, skeletal muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25938801[PMID]","hgnc":"129","ensembl":"ENSG00000143632","omim":"102610","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"25938801[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25938801[PMID]"}],"phenotypes":null}