{"orpha":399086,"name":"HNRNPA1-related adult-onset distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal myopathy type 3","Finnish upper limb-onset distal myopathy","MPD3"],"definition":"Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399086/","orphanet_url":"https://www.orpha.net/en/disease/detail/399086","names":{"fr":{"name":"Myopathie distale de l'adulte associée à HNRNPA1","synonyms":["MPD3","Myopathie distale avec atteinte initiale des membres supérieurs, type finlandais","Myopathie distale type 3"],"definition":"Une myopathie génétique distale rare caractérisée par une faiblesse et une atrophie musculaires lentement progressives, affectant les membres distaux à proximaux, avec une atteinte caractéristique précoce des muscles de l'éminence thénar et hypothénar. Entre la quatrième et la cinquième décennie, les patients développent une maladresse au niveau des mains et trébuchent souvent. Plus tard, ils développent une démarche en steppage et des contractures au niveau des mains. Les muscles des mains, le muscle moyen glutéal et les compartiments antérieurs et postérieurs des extrémités inférieures distales sont affectés par une dégénérescence graisseuse progressive. Les muscles des avant-bras, les triceps, les muscles infra-épineux et les muscles proximaux des membres inférieurs sont atteints plus tardivement. Les muscles sont souvent atteints de manière asymétrique."},"de":{"name":"HNRNPA1-assoziierte distale Myopathie mit Beginn im Erwachsenenalter","synonyms":["Distale Myopathie der obere Extremitäten, Finnischer Typ","MPD3","Myopathie, distale, Typ 3"],"definition":"Eine seltene genetisch bedingte distale Myopathie, die durch langsam fortschreitende distale bis proximale Muskelschwäche und -atrophie der Gliedmaßen gekennzeichnet ist, mit charakteristischer früher Beteiligung der Thenar- und Hypothenarmuskulatur. Die Patienten präsentieren sich in der vierten bis fünften Lebensdekade mit Ungeschicklichkeit der Hände und vermehrtem Stolpern. Später entwickeln sich Steppergang und Kontrakturen der Hände. Die fortschreitende fetthaltige Degeneration betrifft die intrinsischen Muskeln der Hände, den mittleren Gesäßmuskel und die vorderen und hinteren Kompartmentmuskeln der distalen unteren Extremitäten, mit späterer Beteiligung der Unterarmmuskeln, des Trizeps, des Infraspinatus und der proximalen Muskeln der unteren Extremitäten. Eine Asymmetrie der Muskelbeteiligung ist häufig."},"es":{"name":"Miopatía distal de inicio en el adulto asociada a HNRNPA1","synonyms":["MPD3","Miopatía distal finlandesa de incio en las extremidades superiores","Miopatía distal tipo 3"],"definition":"La miopatía distal finlandesa de aparición en las extremidades superiores es una miopatía genética distal poco frecuente caracterizada por atrofia y debilidad muscular lentamente progresivas distal a la musculatura proximal del miembro, con afectación temprana característica de los músculos tenar e hipotenar. Los afectados presentan torpeza de las manos y tropiezos en la cuarta a la quinta décadas de vida, y más tarde desarrollan \"marcha en estepaje\" y contracturas en las manos. La degeneración grasa progresiva afecta a músculos intrínsecos de las manos, glúteos medios y músculos de los compartimentos anteriores y posteriores de las extremidades distales inferiores, con afectación posterior de los músculos del antebrazo, tríceps, infraespinoso y músculos proximales de las extremidades inferiores. También es frecuente la afectación muscular asimétrica."},"it":{"name":"Miopatia distale ad esordio agli arti superiori, tipo finlandese","definition":"La miopatia distale ad esordio agli arti superiori tipo finlandese è una miopatia distale genetica rara, caratterizzata da debolezza e atrofia a progressione lenta dei muscoli distali e prossimali, con caratteristico interessamento precoce dei muscoli dell'eminenza tenar e ipotenar. Nella quarta e quinta decade di vita, i pazienti presentano goffaggine alle mani e tendono ad inciampare; successivamente sviluppano un'andatura a base allargata e contratture delle mani. Una degenerazione grassa progressiva colpisce i muscoli intrinseci delle mani, il muscolo gluteo medio ed entrambi i muscoli del compartimento anteriore e posteriore della porzione distale degli arti inferiori, con interessamento secondario dei muscoli dell'avambraccio, dei tricipiti, del muscolo infraspinato e dei muscoli della porzione prossimale degli arti inferiori. Spesso i muscoli sono colpiti in maniera asimmetrica."},"nl":{"name":"HNRNPA1-gerelateerde distale myopathie met aanvang op volwassen leeftijd","synonyms":["Distale myopathie met aanvang in bovenste ledematen, Fins type","Distale myopathie type 3","MPD3"],"definition":"Finse distale myopathie met aanvang in de bovenste ledematen is een zeldzame, genetische distale myopathie die gekarakteriseerd wordt door traag progressieve spierzwakte en -atrofie in de distale tot proximale ledematen, met typisch vroege betrokkenheid van de spieren van de duimmuis (thenar) en de pinkmuis (hypothenar). Patiënten vertonen onhandigheid met de handen en struikelen vanaf het vierde tot vijfde levensdecennium, en ontwikkelen later hanentred en contracturen van de handen. Progressieve vetdegeneratie treft intrinsieke spieren van de handen, de musculus gluteus medius (middelste bilspier) en spieren in zowel het voorste als achterste deel van de distale onderste ledematen, met later betrokkenheid van de spieren van de voorarm, de triceps, de musculus infraspinatus (onderdoornspier) en de spieren van de proximale onderste ledematen. Asymmetrie van de spierbetrokkenheid komt geregeld voor."},"pt":{"name":"Miopatia distal de início no adulto HNRNPA1- relacionada","synonyms":["MPD3","Miopatia distal finlandesa de início nos membros superiores","Miopatia distal tipo 3"]},"pl":{"name":"Fińska dystalna miopatia w kończynach górnych o wczesnym początku","synonyms":["Dystalna miopatia typu 3","MPD3"]},"cs":{"name":"Finská distální myopatie s nástupem na horních končetinách","synonyms":["Distální myopatie, typ 3","MPD3"]},"uk":{"name":"Фінська дистальна міопатія верхніх кінцівок","synonyms":["Дистальна міопатія типу 3","MPD3"],"definition":"Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common."},"zh":{"name":"芬兰上肢发作性远端肌病","synonyms":["远端肌病3型"],"definition":"芬兰上肢远端肌病是一种罕见的遗传性远端肌病，其特征是四肢近端肌肉无力和萎缩缓慢进展，特征性的早期累及大鱼际肌和小鱼际肌。患者在生命的第四到第五个十年中出现手部笨拙和跌跌撞撞的症状，后可发展为蹒跚步态和手部挛缩。进行性的脂肪变性先可累及手部固有肌肉、臀中肌和下肢远端前、后室肌，随后再累及前臂肌肉、三头肌、冈下肌和下肢近端肌肉。不对称肌受累在本病很常见。"},"tr":{"name":"Fin üst ekstremite-başlangıçlı distal miyopati","synonyms":["MPD3","Distal miyopati tip 3"]}},"xrefs":[{"source":"OMIM","code":"610099","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012410","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566445","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864706","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HNRNPA1","name":"heterogeneous nuclear ribonucleoprotein A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34722876[PMID]","hgnc":"5031","ensembl":"ENSG00000135486","omim":"164017","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12847162[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"12847162[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-14","source":"15036327[PMID]_12847162[PMID]","terms":[{"hpo":"HP:0009031","label":"Amyotrophy of ankle musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009005","label":"Weakness of the intrinsic hand muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Excluded (0%)","criteria":null}]}}