{"orpha":168572,"name":"Native American myopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["STAC3-related congenital myopathy","Bailey-Bloch congenital myopathy","Congenital myopathy-cleft palate-malignant hyperthermia syndrome"],"definition":"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168572/","orphanet_url":"https://www.orpha.net/en/disease/detail/168572","names":{"fr":{"name":"Myopathie amérindienne","synonyms":["Myopathie congénitale associée à STAC3","Myopathie congénitale de Bailey-Bloch","Syndrome de myopathie congénitale-fente palatine-hyperthermie maligne"],"definition":"La myopathie des natifs amérindiens (MNA) est une maladie neuromusculaire caractérisée par une faiblesse musculaire, une arthrogrypose, une cyphoscoliose, une petite taille, une fente palatine, une ptose palpébrale et une susceptibilité à l'hyperthermie maligne sous anesthésie."},"de":{"name":"Native-American-Myopathie","synonyms":["Bailey-Bloch-Myopathie","CMYO13","Kongenitale Myopathie-13","Kongenitale Myopathie-Gaumenspalte-maligne Hyperthermie-Syndrom","STAC3-Störung","STAC3-assoziierte kongenitale Myopathie"],"definition":"Die Native-American-Myopathie (NAM) ist eine neuromuskuläre Krankheit. Sie ist gekennzeichnet durch Schwäche, Arthrogrypose, Kyphoskoliose, Kleinwuchs, Gaumenspalte, Ptose und Suszeptibilität zu maligner Hyperthermie bei Narkosen."},"es":{"name":"Miopatía de los nativos amerindios","synonyms":["Miopatía congénita asociada a STAC3","Miopatía congénita de Bailey-Bloch","Síndrome congénito de miopatía-paladar hendido-hipertemia maligna"],"definition":"La miopatía de los nativos amerindios es un trastorno neuromuscular caracterizado por debilidad, artrogriposis, cifoscoliosis, talla baja, paladar hendido, ptosis y susceptibilidad a hipertermia maligna durante la anestesia."},"it":{"name":"Miopatia dei Nativi americani","synonyms":["Sindrome miopatia congenita-palatoschisi-ipertermia maligna","Miopatia dei Nativi americani","Miopatia congenita associata a STAC3"],"definition":"La miopatia dei nativi Americani (NAM) è una patologia neuromuscolare caratterizzata da debolezza, artrogriposi, cifoscoliosi, bassa statura, palatoschisi, ptosi e suscettibilità all'ipertermia maligna durante l'anestesia."},"nl":{"name":"Noord-Amerikaanse myopathie","synonyms":["Congenitale myopathie - gespleten gehemelte - maligne hyperthermie-syndroom","Congenitale myopathie van Bailey-Bloch","Congenitale myopathie, Bailey-Bloch-type","STAC3-gerelateerde congenitale myopathie"],"definition":"Een neuromusculaire aandoening, gekenmerkt door zwakte, artrogrypose, kyfoscoliose, kleine gestalte, gespleten gehemelte, ptosis, en susceptibiliteit voor maligne hyperthermie door anesthesie."},"pt":{"name":"Miopatia nativo americana","synonyms":["Miopatia congénita Bailey-Bloch","Síndrome de miopatia congénita-fenda palatina-hipertermia maligna","Miopatia congénita STAC3-relacionada"],"definition":"A miopatia nativa americana (NAM) é uma doença neuromuscular caracterizada por fraqueza muscular, artrogripose, cifoscoliose, baixa estatura, fenda do palato, ptose e susceptibilidade a hipertermia maligna durante a anestesia."},"pl":{"name":"Miopatia rdzennych Amerykanów","synonyms":["Wrodzona miopatia- rozszczep podniebienia - hipertermia złośliwa"]},"cs":{"name":"Myopatie rodilých Američanů","synonyms":["Syndrom zahrnující vrozenou myopatii, rozštěp patra a maligní hypertermii"]},"uk":{"name":"Міопатія корінних американців","synonyms":["Синдром вродженої міопатії - розщілини піднебіння - злоякісної гіпертермії"],"definition":"Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia."},"zh":{"name":"美洲原住民肌病","synonyms":["先天性肌病-腭裂-恶性高热综合征"],"definition":"印第安肌病（NAM）是一种神经肌肉疾病，其主要临床表现为无力、关节痉挛、脊柱后凸、身材矮小、腭裂、上睑下垂和麻醉期间易发生恶性高热。"},"tr":{"name":"Amerikan yerlisi miyopatisi","synonyms":["Doğumsal miyopati-yarık damak-habis hipertermi sendromu"]}},"xrefs":[{"source":"OMIM","code":"255995","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2082852788"},{"source":"MONDO","code":"0009722","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538343","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850625","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8432","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":466658,"name":"Rare disease with malignant hyperthermia","classifications":[181]}],"children":[],"genes":[{"symbol":"STAC3","name":"SH3 and cysteine rich domain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23736855[PMID]","hgnc":"28423","ensembl":"ENSG00000185482","omim":"615521","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-02","source":"31219695[PMID]_18553514[PMID]","terms":[{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012084","label":"Abnormality of skeletal muscle fiber size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010674","label":"Abnormality of the curvature of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002803","label":"Congenital contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008458","label":"Progressive congenital scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011819","label":"Submucous cleft soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000329","label":"Facial hemangioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very rare (<4-1%)","criteria":null}]}}