{"orpha":324381,"name":"Hereditary inclusion body myopathy type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HIBM4"],"definition":"Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324381/","orphanet_url":"https://www.orpha.net/en/disease/detail/324381","names":{"fr":{"name":"Myopathie à corps d'inclusion héréditaire type 4","synonyms":["HIBM4","Myopathie à inclusions héréditaire type 4"],"definition":"Une myopathie rare, non dystrophique, caractérisée par une faiblesse et une atrophie musculaires lentement progressives, affectant initialement les membres inférieurs proximaux et la ceinture pelvienne, et plus tardivement, la ceinture scapulaire, les membres supérieurs proximaux et les muscles axiaux. La marche est généralement préservée. La biopsie musculaire révèle des inclusions congophiles à la microscopie électronique, comprenant des inclusions cytoplasmiques de filaments de 15-21 nm."},"de":{"name":"Einschlusskörperchenmyopathie, hereditäre, Typ 4","synonyms":["HIBM4"]},"es":{"name":"Miopatía hereditaria por cuerpos de inclusión tipo 4","synonyms":["HIBM4"],"definition":"La miopatía hereditaria por cuerpos de inclusión tipo 4, es una miopatía no distrófica poco frecuente caracterizada por debilidad muscular de progresión lenta y atrofia que afecta inicialmente a las extremidades inferiores proximales y a la cintura pélvica, y más adelante a la cintura escapular, las extremidades superiores proximales y los músculos axiales. Por lo general, la deambulación está conservada. En la biopsia muscular se observan, por microscopia electrónica, depósitos congofílicos con inclusiones citoplásmicas de filamentos de 15-21 nm."},"it":{"name":"Miopatia ereditaria da corpi inclusi, tipo 4","synonyms":["HIBM4"],"definition":"La miopatia ereditaria da corpi inclusi tipo 4 è una miopatia rara non distrofica, caratterizzata da debolezza e atrofia muscolare a progressione lenta, che interessano inizialmente la porzione prossimale degli arti inferiori e i cingoli delle anche, e successivamente i cingoli delle spalle, i muscoli prossimali degli arti superiori e i muscoli assiali. Di solito la deambulazione viene conservata. La biopsia muscolare evidenzia al microscopio elettronico inclusioni congofiliche con inclusioni citoplasmatiche di filamenti delle dimensioni di 15-21 nm."},"nl":{"name":"Erfelijke inclusielichaammyopathie type 4","synonyms":["HIBM4"],"definition":"Erfelijke inclusielichaammyopathie type 4 is een zeldzame niet-dystrofische myopathie die gekarakteriseerd wordt door traag progressieve spierzwakte en -atrofie, initieel met betrokkenheid van de proximale onderste ledematen en heupgordel en later ook van schoudergordel, proximale bovenste ledematen en axiale spieren. Het vermogen om te stappen blijft doorgaans bewaard. Spierbiopsie toont congofiele inclusies met cytoplasmatische inclusies bestaande uit filamenten ter grootte van 15-21 nm bij elektronenmicroscopie."},"pt":{"name":"Miopatia hereditárica com corpos de inclusão, tipo 4"},"pl":{"name":"Dziedziczna miopatia ciałek wtrętowych typu 4","synonyms":["HIBM4"]},"cs":{"name":"Hereditární myozitida s inkluzními tělísky, typ 4","synonyms":["HIBM4"]},"uk":{"name":"Спадкова міопатія з інклюзивними тілами, тип 4","synonyms":["HIBM4"],"definition":"Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy."},"zh":{"name":"遗传性包涵体肌病4型","synonyms":["HIBM4"],"definition":"遗传性包涵体肌病4型是一种罕见的非营养不良性肌病，其特征是缓慢进行性肌肉无力和萎缩，最初累及近端下肢和臀带肌，后来累及肩带肌、近端上肢和轴肌。患者通常仍可步行。肌肉活检显示，电镜下嗜刚果红细胞内含物中含有15-21纳米的单纤维胞质内含物。"},"tr":{"name":"Kalıtsal inklüzyon vücut miyopatisi tip 4","synonyms":["HIBM4"]}},"xrefs":[{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017931","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749501","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206662,"name":"Inclusion myopathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"22723986[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}