{"orpha":171886,"name":"Cylindrical spirals myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171886/","orphanet_url":"https://www.orpha.net/en/disease/detail/171886","names":{"fr":{"name":"Myopathie à spirales cylindriques","definition":"Une forme rare de myopathie congénitale, caractérisée par une faiblesse musculaire générale, une hypotonie, une myotonie et des crampes, en présence d'inclusions cylindriques en forme de spirale (situées dans les zones centrales et/ou sous-sarcolemmique des fibres musculaires) à la biopsie du muscle squelettique. Une démarche anormale, une scoliose, une encéphalopathie épileptique et un retard psychomoteur peuvent être associés."},"de":{"name":"Myopathie mit zylindrischen Spiralen","definition":"Die Myopathien mit zylindrischen Spiralen ist eine seltene Form der kongenitalen Myopathie, die durch globale Muskelschwäche, Hypotonie, Myotonie und Krämpfe bei Vorhandensein von zylindrischen, spiralförmigen Einschlüssen (in den zentralen und/oder subsakrolemmalen Bereichen der Muskelfasern) in Skelettmuskelbiopsien gekennzeichnet ist. Gangstörung, Skoliose, epileptische Enzephalopathie und psychomotorische Verzögerung können assoziiert sein."},"es":{"name":"Miopatía con espirales cilindricas","definition":"La miopatía con espirales cilíndricas es una forma de miopatía congénita poco frecuente, caracterizada por debilidad muscular generalizada, hipotonía, miotonía y calambres en presencia de inclusiones cilíndricas en forma de espiral (ubicadas en las áreas centrales y/o subsarcolémicas de las fibras musculares) en biopsias de músculo esquelético. También pueden estar asociadas marcha anómala, escoliosis, encefalopatía epiléptica y retraso psicomotor."},"it":{"name":"Miopatia a spirali cilindriche","definition":"La miopatia a spirali cilindriche è una forma rara di miopatia congenita, caratterizzata da debolezza muscolare generalizzata, ipotonia, miotonia e crampi, in presenza di inclusioni cilindriche a forma di spirali (localizzate nelle aree centrali e/o subsarcolemmali delle fibre muscolari), evidenti sulle biopsie dei muscoli scheletrici. Possono associarsi anomalie della deambulazione, scoliosi, encefalopatia epilettica e ritardo psicomotorio."},"nl":{"name":"Myopathie met cilindrische spiralen","definition":"Cilindervormige spiralen myopathie is een zeldzame vorm van congenitale myopathie die gekarakteriseerd wordt door globale spierzwakte, -hypotonie, -myotonie en -krampen in aanwezigheid van cilindrische, spiraalvormige inclusies (gesitueerd in de centrale en/of subsacrolemmale gebieden van de spiervezels) in biopten van skeletspieren. Abnormale gang, scoliose, epileptische encefalopathie en psychomotorische achterstand kunnen geassocieerd zijn."},"pt":{"name":"Miopatia de espirais cilíndricas"},"pl":{"name":"Miopatia z cylindrycznymi spiralami"},"cs":{"name":"Myopatie s cylindrickými spirálami"},"uk":{"name":"Циліндрична спіральна міопатія","definition":"Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated."},"zh":{"name":"柱状螺旋体肌病","definition":"柱状螺旋体肌病是一种罕见的先天性肌病，其特征为骨骼肌活检出柱状螺旋体状包涵体（位于中央和（或）肌膜下区域的肌纤维），主要临床表现为全身肌无力、肌张力低下、肌强直和肌肉抽筋。精神运动发育迟缓可能与异常步态、脊柱侧凸及癫痫性脑病有关。"},"tr":{"name":"Silindirik spiraller 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":"1555346098"},{"source":"MONDO","code":"0008058","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706943","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11906","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}