{"orpha":171889,"name":"Myopathy with hexagonally cross-linked tubular arrays","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171889/","orphanet_url":"https://www.orpha.net/en/disease/detail/171889","names":{"fr":{"name":"Myopathie avec configuration hexagonale des tubules","definition":"Une myopathie congénitale rare, légère, proximale, non dystrophique et lentement progressive. Elle se caractérise par une intolérance à l'effort et une myalgie sans rhabdomyolyse après l'effort, associées à une configuration hexagonale très organisée des tubules, observée à la biopsie du muscle squelettique. Les signes additionnels peuvent inclure une atrophie musculaire (ou une hypotrophie diffuse), une myalgie avec ou sans faiblesse musculaire, une parésie de la musculature du tronc et des ceintures, un léger ptosis, une hyperlordose lombaire, une diminution des réflexes tendineux profonds, des contractures et un pied bot équin varus."},"de":{"name":"Myopathie mit hexagonal verknüpften tubulären Aggregaten","definition":"Die Myopathie mit hexagonal vernetzten tubulären Anordnungen ist eine seltene, kongenitale, nicht-dystrophische, milde, langsam fortschreitende, proximale Myopathie, die durch Belastungsintoleranz und Myalgie nach der Belastung ohne Rhabdomyolyse gekennzeichnet ist und mit hoch organisierten hexagonal vernetzten tubulären Anordnungen in der Skelettmuskelbiopsie einhergeht. Zusätzliche Merkmale können Muskelatrophie (oder diffuse Hypotrophie), Myalgie mit oder ohne Muskelschwäche, Parese der Rumpf- und Extremitätengürtelmuskulatur, minimale Ptosis, lumbale Hyperlordose, verminderte tiefe Sehnenreflexe, Kontrakturen und Pes equinovarus sein."},"es":{"name":"Miopatía con estructura tubular hexagonal","definition":"La miopatía con estructura tubular hexagonal es una miopatía proximal poco frecuente, congénita, no distrófica, leve y de progresión lenta, caracterizada por intolerancia al ejercicio y mialgia post-ejercicio sin rabdomiolisis, asociada con estructuras tubulares hexagonales y altamente organizadas en biopsias de músculo esquelético. Las características adicionales pueden incluir atrofia muscular (o hipotrofia difusa), mialgia con o sin debilidad muscular, paresia de la musculatura troncal y de la cintura escapular, ptosis mínima, hiperlordosis lumbar, reflejos tendinosos disminuidos, contracturas y pie equinovaro."},"it":{"name":"Miopatia con strutture tubulari incrociate ad esagono","definition":"La miopatia con strutture tubulari incrociate ad esagono è una miopatia prossimale congenita rara, lieve, non distrofica, a progressione lenta. È caratterizzata da intolleranza all'esercizio fisico e mialgia post-esercizio senza rabdomiolisi, dalla presenza di strutture tubulari incrociate organizzate ad esagono sulle biopsie muscolari. Altri segni clinici sono l'atrofia muscolare (oppure l'ipotrofia generalizzata), la mialgia con o senza debolezza muscolare, la paresi della muscolatura dei cingoli del tronco, la lieve ptosi, l'iperlordosi lombare, la riduzione dei riflessi tendinei profondi, le contratture e il piede equino-varo."},"nl":{"name":"Myopathie met hexagonaal gekoppelde tubulaire aggregaten","definition":"Myopathie met hexagonaal gekoppelde tubulaire aggregaten is een zeldzame, congenitale, niet-dystrofische, milde, traag progressieve, proximale myopathie die gekarakteriseerd wordt door inspanningsintolerantie en myalgie zonder rabdomyolyse na inspanning, geassocieerd met zeer geordende hexagonaal gekoppelde tubulaire structuren in biopten van skeletspieren. Mogelijke bijkomende kenmerken zijn onder meer spieratrofie (of diffuse hypotrofie), myalgie met of zonder spierzwakte, parese van musculatuur van de romp of ledemaatgordels, minimale ptose, lumbale hyperlordose, verminderde diepe peesreflexen, contracturen en pes equinovarus (klompvoet)."},"pt":{"name":"Miopatia com matrizes tubulares com ligação hexagonal"},"pl":{"name":"Myopathy with hexagonally cross-linked tubular arrays"},"cs":{"name":"Myopatie s hexagonálně zkříženými sadami tubulů"},"uk":{"name":"Міопатія з гексагонально зшитими трубчастими масивами","definition":"Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus."},"zh":{"name":"肌病伴六角车辐状管排列","definition":"肌病伴六边形交联管状排列是一种罕见的先天性非营养不良性近端肌病，呈轻度进行性发展，其主要临床表现为运动耐量降低和运动后肌痛，无横纹肌溶解症状，与骨骼肌活检中高度组织化的六边形交联管状阵列有关。其他临床表现为肌肉萎缩（或弥漫性营养不良）、肌痛伴或不伴肌无力、躯干肌和肢带肌轻瘫、轻度上睑下垂、腰椎前凸、肌反射减弱、肌挛缩和马蹄内翻足。"},"tr":{"name":"Altıgen çapraz bağlı tübüler diziler ile seyreden miyopati"}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1953170361"},{"source":"MONDO","code":"0015755","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707259","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}