{"orpha":324581,"name":"Benign Samaritan congenital myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324581/","orphanet_url":"https://www.orpha.net/en/disease/detail/324581","names":{"fr":{"name":"Myopathie congénitale bénigne des Samaritains","definition":"Maladie génétique rare du muscle squelettique caractérisée par une hypotonie néonatale sévère accompagnée d'une insuffisance respiratoire, d'un retard de développement moteur et d'une dysmorphie à type de rétrécissement bitemporal, d'épicanthus et d'hypertélorisme. Une amélioration progressive de l'hypotonie et de la faiblesse musculaire s'observent chez les patients au cours des deux premières années de vie, aussi, les manifestations cliniques à l'âge adulte sont minimes."},"de":{"name":"Myopathie, benigne, Typ Samariter","synonyms":["Samariter-Myopathie, kongenitale"]},"es":{"name":"Miopatía congénita benigna del samaritano","definition":"La miopatía congénita benigna del samaritano, es una enfermedad muscular esquelética, genética y poco frecuente, caracterizada por hipotonía neonatal grave con insuficiencia respiratoria, retraso motor y características dismórficas que incluyen estrechamiento bitemporal, pliegues epicánticos e hipertelorismo. Los afectados muestran una mejora gradual de la hipotonía y de la debilidad muscular en los primeros dos años de vida, lo que resulta en manifestaciones clínicas mínimas en la edad adulta."},"it":{"name":"Miopatia congenita benigna del Samaritano","definition":"La miopatia congenita benigna del Samaritano è una malattia muscolo-scheletrica genetica rara, caratterizzata da grave ipotonia neonatale associata ad insufficienza respiratoria, ritardo dello sviluppo motorio e dismorfismi facciali (restringimento bitemporale, epicanto ed ipertelorismo). I pazienti presentano un miglioramento graduale dell'ipotonia e della debolezza muscolare nei primi due anni di vita, con segni clinici sfumati nell'età adulta."},"nl":{"name":"Goedaardige Samaritaanse congenitale myopathie","definition":"Goedaardige Samaritaanse congenitale myopathie is een zeldzame, genetische skeletspierziekte die gekarakteriseerd wordt door ernstige neonatale hypotonie met respiratoire insufficiëntie, uitgestelde motorische mijlpalen, en dysmorfe kenmerken waaronder bitemporale vernauwing, epicanthusplooien en hypertelorisme. Getroffen individuen tonen graduele verbetering van hypotonie en spierzwakte binnen de twee eerste levensjaren, met als gevolg minimale klinische manifestaties in de volwassenheid."},"pt":{"name":"Miopatia congénita benigna do Samaritano"},"pl":{"name":"Łagodna wrodzona miopatia Samarytan","definition":"*Łagodna wrodzona miopatia Samarytan jest rzadką, genetycznie uwarunkowaną chorobą mięśni szkieletowych, która charakteryzuje się ciężką hipotonią noworodków z niewydolnością oddechową, opóźnieniem kamieni milowych rozwoju ruchowego i cechami dysmorficznymi, obejmującymi zwężenie dwuskroniowe czoła, zmarszczki nakątne i hiperteloryzm. W ciągu pierwszych dwóch lat życia stopniowo ustępuje hipotonia i osłabienie mięśni, co przekłada się na obecność minimalnych objawów klinicznych w wieku dorosłym."},"cs":{"name":"Benigní samaritánská vrozená myopatie"},"uk":{"name":"Доброякісна самаритянська вроджена міопатія","definition":"Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood."},"zh":{"name":"良性撒马利亚先天性肌病","definition":"良性Samaritan先天性肌病是一种罕见的遗传性骨骼肌疾病，其特征为严重的新生儿张力低下伴呼吸功能不全、运动里程碑延迟和畸形特征，包括双颞狭窄、内眦赘皮和眼距过宽。患者在两岁前出现张力减退和肌肉无力的逐渐改善，成年后临床表现很少。"},"tr":{"name":"Selim Samaritan doğumsal miyopati"}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017936","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749502","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]},{"orpha":98742,"name":"Neurological muscular channelopathy due to a genetic ryanodine receptor defect","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22752422[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22752422[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-10","source":"16959509[PMID]_22752422[PMID]","terms":[{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031139","label":"Frog-leg posture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031237","label":"Internally nucleated skeletal muscle fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}