{"orpha":319332,"name":"Autosomal recessive myogenic arthrogryposis multiplex congenita","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive myogenic AMC","SYNE1-related AMC","SYNE1-related arthrogryposis multiplex congenita"],"definition":"Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319332/","orphanet_url":"https://www.orpha.net/en/disease/detail/319332","names":{"fr":{"name":"Arthrogrypose multiple congénitale myogénique autosomique récessive","synonyms":["AMC myogénique autosomique récessive","Arthrogrypose multiple congénitale associée à SYNE1"],"definition":"Une maladie neuromusculaire héréditaire rare caractérisée par la survenue prénatale (habituellement au cours du second trimestre) d'une réduction des mouvements foetaux et un positionnement foetal anormal, conduisant à des anomalies articulaires habituellement symétriques, pouvant atteindre les extrémités supérieures et inférieures. Elles sont associées à une hypotonie sévère à la naissance, un pied bot bilatéral, un retard de développement moteur, une légère faiblesse faciale sans ophtalmoplégie, une absence de réflexes tendineux profonds, en présence de vitesses de conduction nerveuse motrice et sensorielle normales, et sans atteinte cérébelleuse ou pyramidale. La maladie évolue progressivement. La locomotion est perdue après la première décennie de vie."},"de":{"name":"Myogene Arthrogryposis multiplex congenita, autosomal-rezessive","synonyms":["AMC, myogene, autosomal-rezessive","Arthrogryposis multiplex congenita, SYNE1-abhängige","SYNE1-abhängige AMC"],"definition":"Die autosomal-rezessive myogene Arthrogryposis multiplex congenita ist eine seltene, vererbte neuromuskuläre Erkrankung, die sich bereits pränatal (gewöhnlich im zweiten Trimester) präsentiert und von reduzierten fetalen Bewegungen und Fehlstellung der Gelenke gekennzeichnet ist. Die Gelenkanomalien können sowohl untere als auch obere Extremitäten betreffen und sind gewöhnlich symmetrisch. Die Krankheit manifestiert sich durch schwere Hypotonie bei der Geburt mit beidseitigem Klumpfuß, Verzögerung der motorischen Entwicklung, leichte Schwäche der Fazialmuskeln ohne Opthalmoplegie, fehlende tiefe Sehnenreflexe, normale motorische und sensorische Nervenleitgeschwindigkeiten. Eine Beteiligung des Kleinhirns oder der Pyramiden liegt nicht vor. Ein progressiver Krankheitsverlauf führt zum Verlust der Gehfähigkeit nach dem ersten Lebensjahrzehnt."},"es":{"name":"Artrogriposis múltiple congénita miogénica autosómica recesiva","synonyms":["AMC asociada a SYNE1","AMC miogénica autosómica recesiva","Artrogriposis múltiple congénita asociada a SYNE1"],"definition":"La artrogriposis múltiple congénita miogénica autosómica recesiva es una enfermedad neuromuscular hereditaria poco frecuente, caracterizada por la presentación prenatal (generalmente en el segundo trimestre) de movimientos fetales reducidos y posicionamiento anómalo que produce anomalías en las articulaciones que pueden afectar a las extremidades inferiores y superiores y que, por lo general, produce hipotonía simétrica y grave al nacimiento, con pie zambo bilateral, retraso del desarrollo motor, debilidad facial leve sin oftalmoplejía, ausencia de reflejos osteotendinosos, velocidades de conducción nerviosa sensorial y motora normales, ausencia de afectación cerebelosa o piramidal, y curso clínico progresivo con pérdida de la deambulación después de la primera década de vida."},"it":{"name":"Artrogriposi multipla congenita miogenica autosomica recessiva","synonyms":["AMC associato a SYNE1","AMC miogenico autosomico recessivo","Artrogriposi multipla congenita associata a SYNE1"],"definition":"L'artrogriposi multipla congenita miogenica autosomica recessiva è una malattia neuromuscolare ereditaria rara ad esordio prenatale (di solito nel secondo trimestre di gravidanza), caratterizzata dalla riduzione dei movimenti fetali e da posizionamenti anomali che esitano in anomalie articolari, di solito simmetriche, che possono interessare sia gli arti inferiori, sia quelli superiori. Si associa a grave ipotonia alla nascita, piede equino bilaterale, ritardo dello sviluppo motorio, lieve debolezza del viso senza oftalmoplegia, assenza dei riflessi tendinei profondi, normale velocità di conduzione dei nervi motori e sensoriali in assenza di un coinvolgimento cerebellare o piramidale. Il decorso della malattia è progressivo ed esita nella perdita della deambulazione dopo la prima decade di vita."},"nl":{"name":"Autosomaal recessieve myogene arthrogryposis multiplex congenita","synonyms":["Autosomaal recessieve myogene AMC","SYNE1-gerelateerde AMC","SYNE1-gerelateerde arthrogryposis multiplex congenita"],"definition":"Autosomaal recessieve myogene arthrogryposis multiplex congenita is een zeldzame, erfelijke neuromusculaire ziekte die gekarakteriseerd wordt door prenataal voorkomen (meestal in het tweede trimester) van verminderde foetale bewegingen en abnormale positionering, met als gevolg gewrichtsafwijkingen die zowel onderste als bovenste ledematen kunnen treffen en meestal symmetrisch zijn, ernstige hypotonie bij de geboorte met bilaterale klompvoet, motorische ontwikkelingsachterstand, milde faciale zwakte zonder oftalmoplegie, afwezige diepe peesreflexen, normale motorische en sensorische zenuwgeleidingssnelheden, geen cerebellaire of piramidale betrokkenheid, en een progressief ziekteverloop met verlies van het loopvermogen na het eerste levensdecennium."},"pt":{"name":"Artrogripose miogénica multiplex congénita autossómica recessiva"},"pl":{"name":"Autosomalna recesywna miogeniczna artrogrypoza","synonyms":["AMC zwiaząna z SYNE1","Artrogrypoza związana z SYNE1","Autosomalna recesywna miogeniczna AMC"]},"cs":{"name":"Autozomálně recesivní myogenní artrogryposis multiplex congenita","synonyms":["SYNE1-vázaná AMC","SYNE1-vázaná artrogryposis multiplex congenita","Autozomálně recesivní myogenní AMC"]},"uk":{"name":"Аутосомно-рецесивний міогенний артрогрипоз мультиплексний вроджений","synonyms":["Аутосомно-рецесивна міогенна АМС","AMC, повязані з SYNE1","Вроджений мультиплексний артрогрипоз, повязаний з SYNE1"],"definition":"Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life."},"zh":{"name":"常染色体隐性遗传多发性先天性肌源性关节病","synonyms":["SYNE1基因相关多发性先天性关节病"],"definition":"常染色体隐性肌源性多发性先天性关节挛缩是一种罕见的遗传性神经肌肉疾病，其特征是产前（通常在妊娠中期）胎动减少和姿势异常导致的关节异常，可累及下肢和上肢，通常是对称的，伴有出生时严重低血压，双侧马蹄内翻足，运动发育迟缓，轻度面部无力不伴视丘脑麻痹，深部肌腱反射缺失，运动和感觉神经传导速度正常，无小脑或锥体受累，呈进展性病程，十岁后丧失行走能力。"},"tr":{"name":"Otozomal resesif miyojenik artrogripozis multipleks konjenita","synonyms":["SYNE1-ilişkili AMC","Otozomal çekinik miyojenik AMC","SYNE1-ilişkili artrogripozis multipleks konjenita"]}},"xrefs":[{"source":"OMIM","code":"618484","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017892","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707155","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SYNE1","name":"spectrin repeat containing nuclear envelope protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19542096[PMID]","hgnc":"17089","ensembl":"ENSG00000131018","omim":"608441","loci":["6q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"19542096[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19542096[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-11-08","source":"35739559[PMID]_27782104[PMID]_19542096[PMID]","terms":[{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430025","label":"Bilateral facial palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030200","label":"Fatiguable weakness of proximal limb muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005191","label":"Congenital knee dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001188","label":"Hand clenching","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031729","label":"Moderate hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Excluded (0%)","criteria":null}]}}