{"orpha":476406,"name":"Congenital generalized hypercontractile muscle stiffness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-476406/","orphanet_url":"https://www.orpha.net/en/disease/detail/476406","names":{"fr":{"name":"Syndrome congénital de rigidité musculaire hypercontractile généralisée","definition":"Anomalie rare de la tropomyosine caractérisée par une diminution des mouvements foetaux et une raideur musculaire généralisée à la naissance. Les autres caractéristiques sont des contractures articulaires, une petite taille, une cyphose, des traits dysmorphiques, un dérèglement de la température et une atteinte respiratoire plus ou moins grave avec hypoxémie. La biopsie musculaire montre de légères modifications myopathiques."},"de":{"name":"Syndrom der kongenitalen generalisierten hyperkontraktilen Muskelsteifheit","definition":"Ein seltener Tropomyosin-Defekt, der durch verminderte fetale Bewegungen und allgemeine Muskelsteifheit bei der Geburt gekennzeichnet ist. Zu den weiteren Merkmalen gehören Gelenkkontrakturen, Kleinwuchs, Kyphose, dysmorphe Merkmale, Temperaturdysregulation und eine unterschiedlich starke Beeinträchtigung der Atmung mit Hypoxämie. Die Muskelbiopsie zeigt leichte myopathische Merkmale."},"es":{"name":"Síndrome de rigidez muscular hipercontractil congénito generalizado","definition":"Es un defecto de la tropomiosina poco frecuente caracterizado por disminución de los movimientos fetales y rigidez muscular generalizada al nacer. Otras características adicionales incluyen contracturas articulares, talla baja, cifosis, rasgos dismórficos, desregulación de la temperatura y afectación respiratoria de gravedad variable con hipoxemia. La biopsia muscular muestra características miopáticas leves."},"it":{"name":"Sindrome congenita da rigidità muscolare generalizzata ipercontrattile","definition":"Si tratta di un difetto raro della tropomiosina, caratterizzato dalla riduzione dei movimenti fetali e dalla rigidità muscolare generalizzata congenita. Altri segni clinici sono le contratture articolari, la bassa statura, la cifosi, i dismorfismi, la disregolazione della temperatura e l'interessamento respiratorio di gravità variabile con ipossiemia. La biopsia muscolare mostra una lieve miopatia."},"nl":{"name":"Congenitale gegeneraliseerde hypercontractiele spierstijfheid-syndroom","definition":"Een zeldzaam defect van tropomyosine, gekarakteriseerd door verminderde foetale bewegingen en gegeneraliseerde spierstijfheid bij de geboorte. Bijkomende kenmerken zijn onder meer gewrichtscontracturen, kleine gestalte, kyfose, dysmorfe kenmerken, verstoorde regulatie van lichaamstemperatuur, en variabel ernstige respiratoire betrokkenheid met hypoxemie. Spierbiopsie toont milde myopathische kenmerken."},"pt":{"name":"Síndrome de rigidez muscular hipercontráctil generalizada congénita"},"pl":{"name":"Wrodzony uogólniony zespół sztywności mięśniowej z hiperkurczliwością"},"cs":{"name":"Kongenitální generalizovaný syndrom hyperkontraktilní svalové ztuhlosti"},"uk":{"name":"Вроджений генералізований синдром гіперскоротливої ригідності мязів","definition":"A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features."},"zh":{"name":"遗传性全身过度收缩性肌肉僵硬综合征","definition":"一种罕见的肌球蛋白缺陷，特点是胎儿运动减少，出生时肌肉普遍僵硬。其他特征包括关节挛缩、身材矮小、驼背、畸形特征、体温失调和不同程度的呼吸系统严重受累并伴有低氧血症。肌肉活检显示轻度肌病特征。"},"tr":{"name":"Doğumsal jeneralize hiper kasılma kas sertliği sendromu"}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567789","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":476403,"name":"Hypercontractile muscle stiffness syndrome","classifications":[156,181]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":284790,"name":"Qualitative or quantitative defects of tropomyosin","classifications":[156]}],"children":[],"genes":[{"symbol":"TPM3","name":"tropomyosin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26418456[PMID]","hgnc":"12012","ensembl":"ENSG00000143549","omim":"191030","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"26418456[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26418456[PMID]"}],"phenotypes":null}