{"orpha":476093,"name":"HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MFM13","Myofibrillar myopathy-rimmed vacuoles type 13"],"definition":"A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-476093/","orphanet_url":"https://www.orpha.net/en/disease/detail/476093","names":{"fr":{"name":"Syndrome autosomique dominant de neuropathie motrice distale axonale-myopathie myofibrillaire associée à HSPB8","definition":"Maladie neuromusculaire génétique rare caractérisée par une neuropathie motrice axonale longueur-dépendante affectant principalement les membres inférieurs, en association avec une myopathie présentant des caractéristiques morphologiques de myopathie myofibrillaire avec des agrégats et vacuoles bordées. La maladie apparaît généralement entre la deuxième et la troisième décennie de la vie. Les patients présentent une faiblesse et une atrophie musculaires lentement progressives affectant dans un premier temps les muscles distaux puis les muscles proximaux des membres inférieurs, et les muscles du tronc. Aucun cas d'atteinte des muscles respiratoires et cardiaques n'est rapporté."},"de":{"name":"Distale axonale motorische Neuropathie-myofibrilläre Myopathie-Syndrom, HSPB8-assoziiertes","synonyms":["MFM13","Myofibrilläre Myopathie mit geränderten Vakuolen Typ 13"],"definition":"Eine genetisch bedingte neuromuskuläre Erkrankung, die durch eine längenabhängige axonale motorische Neuropathie gekennzeichnet ist, die vorwiegend die unteren Gliedmaßen betrifft, in Kombination mit einer Myopathie mit morphologischen Merkmalen einer myofibrillären Myopathie mit Aggregaten und umrandeten (\"rimmed\") Vakuolen. Das Erkrankungsalter liegt typischerweise im zweiten bis dritten Lebensjahrzehnt. Die Patienten zeigen eine langsam fortschreitende Muskelschwäche und -atrophie, die zunächst die distalen unteren Gliedmaßen betrifft und später auch auf die proximalen Gliedmaßen und die Rumpfmuskulatur übergreift. Die Atem- und Herzmuskulatur ist nicht betroffen."},"es":{"name":"Síndrome de neuropatía motora distal axonal-miopatía miofibrilar autosómico dominante asociado a HSPB8","synonyms":["MFM13","Miopatía miofibrilar con vacuolas ribeteadas tipo 13"],"definition":"Es una enfermedad neuromuscular de origen genético poco frecuente caracterizada por una neuropatía axonal motora dependiente de la longitud que afecta predominantemente a las extremidades inferiores, combinada con una miopatía con hallazgos morfológicos de miopatía miofibrilar con agregados y vacuolas ribeteadas. El síndrome debuta, típicamente, entre la segunda y la tercera década de la vida. Los pacientes se presentan con debilidad y atrofia muscular lentamente progresivas, afectando inicialmente a la porción distal de las extremidades inferiores, progresando posteriormente hasta afectar a la parte proximal de las extremidades y los músculos del tronco. Los músculos cardíacos y respiratorios no están afectados."},"it":{"name":"Sindrome autosomica dominante neuropatia motoria assonale distale-miopatia miofibrillare correlata a HSPB8","synonyms":["MFM13","Miopatia miofibrillare-vacuoli cerchiati tipo 13"],"definition":"Si tratta di una malattia neuromuscolare genetica rara, caratterizzata da neuropatia motoria assonale dipendente dalla lunghezza, che interessa prevalentemente gli arti inferiori, associata ad una miopatia che presenta le caratteristiche morfologiche della miopatia miofibrillare con aggregati e vacuoli cerchiati. In genere la malattia esordisce nella seconda o nella terza decade. I pazienti presentano debolezza e atrofia muscolare a progressione lenta, che inizialmente interessano la porzione distale degli arti inferiori e, successivamente, anche la porzione prossimale degli arti e i muscoli del tronco. I muscoli respiratori e il cuore sono risparmiati."},"nl":{"name":"HSPB8-gerelateerd autosomaal dominant distale axonale motorneuropathie - myofibrillaire myopathie-syndroom","synonyms":["MFM13","Myofibrillaire myopathie - omrande vacuolen type 13"],"definition":"Een zeldzame, genetische neuromusculaire aandoening, gekarakteriseerd door lengte-afhankelijke axonale motorische neuropathie die hoofdzakelijk onderste ledematen treft, in combinatie met een myopathie met morfologische kenmerken van myofibrillaire myopathie met aggregaten en omrande vacuolen. De aanvangsleeftijd ligt doorgaans in het tweede tot derde levensdecennium. Patiënten vertonen traag progressieve spierzwakte en -atrofie die initieel distale onderste ledematen treffen, en later ook proximale ledematen en rompspieren aantasten. Ademhalings- en hartspieren zijn niet betrokken."},"pt":{"name":"Síndrome de neuropatia motora axonal distal-miopatia fibrilar autossómica dominante","synonyms":["MFM13","Miopatia miofibrilar-vacúolos com bordo tipo 13"]},"pl":{"name":"Zespół autosomalnie dominującej dystalnej aksonalnej neuropatii ruchowej – miopatii miofibrylarnej związanej z HSPB8","synonyms":["MFM13","Myofibrillar myopathy-rimmed vacuoles type 13"]},"cs":{"name":"Autozomálně dominantní syndrom zahrnující distální axonální motorickou neuropatii a myofibrilární myopatii","synonyms":["MFM13","Myofibrillar myopathy-rimmed vacuoles type 13"]},"uk":{"name":"Синдром аутосомно-домінантної дистальної аксональної моторної нейропатії-міофібрилярної міопатії","definition":"A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles."},"zh":{"name":"常染色体显性遗传性远端轴突运动神经病-肌原纤维肌病综合征","definition":"是一种罕见的遗传性神经肌肉疾病，以长度依赖性轴索运动神经病变为主，主要影响下肢，同时合并具有形态学特征为聚集性和边缘空泡的肌纤维肌病。发病年龄一般在二十岁到三十岁。患者表现为缓慢进行性的肌无力和萎缩，最初影响下肢远端，以后发展到累及近端肢体，也累及三头肌。呼吸肌和心肌不受累。"},"tr":{"name":"Otozomal dominant distal aksonal motor nöropati-miyofibriler miyopati sendromu"}},"xrefs":[{"source":"OMIM","code":"621078","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568137","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140465,"name":"Autosomal dominant distal hereditary motor neuropathy","classifications":[156,181]},{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":593,"name":"Myofibrillar myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HSPB8","name":"heat shock protein family B (small) member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26718575[PMID]","hgnc":"30171","ensembl":"ENSG00000152137","omim":"608014","loci":["12q24.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"26718575[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26718575[PMID]"}],"phenotypes":null}