{"orpha":424107,"name":"Congenital myopathy with myasthenic-like onset","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424107/","orphanet_url":"https://www.orpha.net/en/disease/detail/424107","names":{"fr":{"name":"Myopathie congénitale à début pseudo-myasthénique","definition":"Une myopathie génétique rare, non dystrophique, caractérisée par une fatigabilité musculaire associée à une myopathie congénitale. Les patients présentent une hypotonie axiale, un visage myopathique avec un ptosis dû à une fatigabilité, des difficultés pour s'alimenter, un retard de développement de la motricité globale et une faiblesse des muscles proximaux avec un schéma d'atteinte musculaire typique, lié à RYR1 (atteinte sévère du muscle soléaire en épargnant le muscle fémoral droit et les muscles sartorius, graciles et semi-tendineux). Les signes additionnels observés sont une scoliose et des infections récurrentes des voies respiratoires."},"de":{"name":"Kongenitale Myopathie mit Myasthenie-ähnlichem Beginn","definition":"Eine seltene, genetische, nicht-dystrophische Myopathie, die durch eine Muskelschwäche mit schneller Ermüdbarkeit in Verbindung mit einer kongenitalen Myopathie gekennzeichnet ist. Die Patienten präsentieren sich mit axialer Hypotonie, myopathischem Gesichtsausdruck mit ermüdungsabhängiger Ptose, Fütterungsschwierigkeiten, verzögerter grobmotorischer Entwicklung und proximaler Gliedmaßenschwäche mit einem RYR1-bedingten typischen Muster der Muskelbeteiligung (d. h. starke Beteiligung des M. soleus und geringe Beteiligung des M. rectus femoris, M. sartorius, M. gracilis und M. semitendinus). Skoliose und häufige Atemwegsinfektionen sind weitere beobachtete Merkmale."},"es":{"name":"Miopatía congénita con inicio similar al miasténico","definition":"La miopatía congénita con inicio tipo miastenía es una miopatía genética, no distrófica, poco frecuente, caracterizada por debilidad muscular fatigable asociada a miopatía congénita. Los pacientes presentan hipotonía axial, facies miopáticas con ptosis fatigable, dificultades para alimentarse, retraso del desarrollo motor y debilidad proximal de las extremidades con un patrón típico de afectación muscular relacionado con RYR1 (es decir, compromiso grave del músculo sóleo y preservación de los músculos recto femoral, sartorio, grácilis y semitendinosos). Otras características observadas son escoliosis e infecciones frecuentes del tracto respiratorio."},"it":{"name":"Miopatia congenita a esordio simil-miastenico","definition":"La miopatia congenita ad esordio simil-miastenico è una miopatia genetica rara non distrofica, caratterizzata da debolezza muscolare con affaticamento associata a miopatia congenita. I pazienti presentano ipotonia assiale, facies miopatica con ptosi da affaticamento, difficoltà alimentari, ritardo dello sviluppo della motricità grossolana e debolezza della porzione prossimale degli arti associata a un coinvolgimento muscolare caratteristico correlato a RYR1 (spiccato interessamento del muscolo soleo, senza interessamento dei muscoli retto femorale, sartorio, gracile e semitendinoso). Altri segni clinici sono la scoliosi e le frequenti infezioni delle vie aeree."},"nl":{"name":"Congenitale myopathie met myasthenie-achtige aanvang","definition":"Congenitale myopathie met myastheenachtige aanvang is een zeldzame, genetische, niet-dystrofische myopathie die gekarakteriseerd wordt door vermoeibare spierzwakte geassocieerd met congenitale myopathie. Patiënten vertonen axiale hypotonie, myopathisch gelaat met vermoeibare ptose, voedingsproblemen, motorische ontwikkelingsachterstand en zwakte van de proximale ledematen met een RYR1-gerelateerd typisch patroon van spierbetrokkenheid (i.e. ernstige betrokkenheid van de musculus soleus (scholspier) en gespaard blijven van de musculus rectus femoris, sartorius (kleermakersspier), gracilis (slanke spier) en semitendinosus). Bijkomende kenmerken die worden waargenomen, zijn scoliose en frequente infecties van de luchtwegen."},"pt":{"name":"Miopatia congénita com início semelhante à miastenia"},"pl":{"name":"Miopatia wrodzona o początku podobnym do miastenii"},"cs":{"name":"Vrozená myopatie s nástupem podobným myastenii"},"uk":{"name":"Вроджена міопатія з міастенічним початком","definition":"Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features."},"zh":{"name":"先天性肌病伴肌无力样发作","definition":"先天性肌病合并肌无力样起病形式是一种罕见的遗传性非营养不良性肌病，其特征为与先天性肌病相关的疲劳性肌无力。患者表现为轴性肌张力减退、肌病面容伴疲劳性上睑下垂，进食困难，粗大运动发育迟缓，近端肢体无力以及RYR1基因相关的典型肌肉受累模式（比如：比目鱼肌严重受累，股直肌、缝匠肌、股薄肌和半腱肌搏动）。脊柱侧凸和频繁的呼吸道感染是额外的可观察到的特征。"},"tr":{"name":"Miyastenik benzeri başlangıç ile seyreden doğumsal miyopati"}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018528","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706390","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":"24951453[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":2.0,"area":"Worldwide","status":"Validated","source":"24951453[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24951453[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"24951453[PMID]_21482111[PMID]_29556213[PMID]","terms":[{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003789","label":"Minicore myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0040191","label":"Rectus femoris muscle atrophy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Excluded (0%)","criteria":null}]}}