{"orpha":289380,"name":"Myosclerosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital myosclerosis, Löwenthal type"],"definition":"Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289380/","orphanet_url":"https://www.orpha.net/en/disease/detail/289380","names":{"fr":{"name":"Myosclérose","synonyms":["Myosclérose congenitale, type Löwenthal"],"definition":"La myosclérose est une myopathie génétique rare, non dystrophique, caractérisée par des contractures articulaires et musculaires précoces, diffuses et progressives, qui limitent fortement le mouvement des articulations axiales, proximales et distales, et entraînent des difficultés pour marcher en début d'enfance et une marche sur la pointe des pieds. Les patients présentent typiquement des muscles fins, sclérosés, ayant une consistance proche du bois, une légère faiblesse des membres proximaux et des ceintures, une faiblesse distale modérée et une scoliose. La biopsie musculaire révèle un déficit partiel en collagène de type VI au niveau de la membrane basale myofibrillaire, et une absence de collagène de type VI autour des capillaires endomysiaux/périmysiaux."},"de":{"name":"Myosklerose","synonyms":["Myosklerose, kongenitale, Typ Löwenthal"],"definition":"Myosklerose ist eine seltene, genetisch bedingte, nicht-dystrophische Myopathie, die durch frühe, diffuse, fortschreitende Muskel- und Gelenkkontrakturen gekennzeichnet ist, die zu schweren Bewegungseinschränkungen der axialen, proximalen und distalen Gelenke, Gehschwierigkeiten in der frühen Kindheit und Zehengang führen. Die Patienten zeigen typischerweise dünne, sklerotische Muskeln mit einer holzigen Konsistenz, eine leichte Gliedergürtel- und proximale Gliedmaßenschwäche mit mäßiger distaler Schwäche und Skoliose. Die Muskelbiopsie zeigt einen partiellen Kollagen-VI-Mangel an der Basalmembran der Myofibrillen und fehlendes Kollagen VI um die meisten endomysialen/perimysialen Kapillaren."},"es":{"name":"Mioesclerosis","synonyms":["Mioesclerosis congénita tipo Löwenthal"],"definition":"La mioesclerosis es una miopatía, genética, no distrófica poco frecuente que se caracteriza por contracturas tempranas, difusas y progresivas en los músculos y las articulaciones que producen una limitación grave del movimiento de las articulaciones axiales, proximales y distales, dificultades para caminar en la primera infancia y marcha en puntillas. Los afectados suelen presentar músculos delgados y escleróticos de consistencia leñosa, debilidad leve de cinturas y proximal de las extremidades con debilidad distal moderada y escoliosis. La biopsia muscular muestra una deficiencia parcial de colágeno VI en la membrana basal de las miofibras y ausencia de colágeno VI alrededor de la mayoría de los capilares endomisiales/perimisiales."},"it":{"name":"Miosclerosi","synonyms":["Miosclerosi congenita, tipo Löwenthal"],"definition":"La miosclerosi è una miopatia genetica rara non distrofica, caratterizzata da contratture muscolari e articolari precoci, diffuse e progressive, che causano una grave limitazione del movimento delle articolazioni assiali, prossimali e distali, difficoltà della deambulazione nella prima infanzia e camminata in punta di piedi. Di solito i pazienti presentano muscoli sottili e sclerotici, di consistenza legnosa, debolezza lieve dei cingoli e degli arti prossimali associata a debolezza distale moderata e scoliosi. La biopsia dei muscoli evidenzia un deficit parziale del collagene VI nella membrana basale della miofibra e l'assenza di collagene VI attorno alla maggior parte dei capillari endomisiali/perimisiali."},"nl":{"name":"Myosclerose","synonyms":["Congenitale myosclerose, Löwenthal-type"],"definition":"Myosclerose is een zeldzame, genetische, niet-dystrofische myopathie die gekarakteriseerd wordt door vroege, diffuse, progressieve spier- en gewrichtscontracturen, die leiden tot ernstige bewegingsbeperking van axiale, proximale en distale gewrichten, moeilijkheden met stappen in de vroege kindertijd en tenenlopen. Doorgaans vertonen patiënten dunne, sclerotische spieren met een houtachtige structuur, milde zwakte van de ledemaatgordels en proximale ledematen met matige distale zwakte, en scoliose. Analyse van spierbiopten toont gedeeltelijke deficiëntie van collageen VI in de basale membraan van spiervezels en afwezigheid van collageen VI rond de meeste endomysiale/perimysiale capillairen."},"pt":{"name":"Miosclerose","synonyms":["Miosclerose congénita, tipo Löwenthal"]},"pl":{"name":"Stwardnienie mięśni","synonyms":["Wrodzone stwardnienie mięśni"]},"cs":{"name":"Myoskleróza","synonyms":["Vrozená myoskleróza, Löwenthalův typ"]},"uk":{"name":"Міосклероз","synonyms":["Вроджений міосклероз, тип Левенталя"],"definition":"Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries."},"zh":{"name":"肌硬化症","synonyms":["Löwenthal型先天性肌硬化症"],"definition":"肌硬化是一种罕见的遗传性非肌营养不良性肌病，其特征是早期弥漫性进行性肌肉和关节挛缩，导致轴、近端和远端关节运动严重受限，儿童早期行走困难和趾尖行走。患者常表现为肌肉薄而硬，呈木质硬度，轻度腰带肌和近端肌无力，伴有中度远端肌无力和脊柱侧弯。肌肉活检显示肌纤维基膜VI型胶原部分缺乏，大部分毛细血管内/周VI型胶原缺乏。"},"tr":{"name":"Miyoskleroz","synonyms":["Doğumsal miyoskleroz, Löwenthal tipi"]}},"xrefs":[{"source":"OMIM","code":"255600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2105106550"},{"source":"MONDO","code":"0009714","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850671","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064584","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]},{"orpha":207090,"name":"Qualitative or quantitative defects of collagen 6","classifications":[156]}],"children":[],"genes":[{"symbol":"COL6A2","name":"collagen type VI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18852439[PMID]","hgnc":"2212","ensembl":"ENSG00000142173","omim":"120240","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}