{"orpha":399058,"name":"Alpha-B crystallin-related late-onset myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-B crystallin-related late-onset distal myopathy","Late-onset distal crystallinopathy"],"definition":"A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399058/","orphanet_url":"https://www.orpha.net/en/disease/detail/399058","names":{"fr":{"name":"Myopathie tardive associée à l'alpha-B cristalline","synonyms":["Cristallinopathie distale tardive","Myopathie distale tardive associée à l'alpha-B cristalline"],"definition":"Alpha-cristallinopathie rare d'origine génétique, caractérisée par une myopathie myofibrillaire débutant à l'âge adulte, associée de manière inconstante à une cardiomyopathie et/ou à une cataracte polaire postérieure. Les patients présentent généralement une faiblesse musculaire distale et proximale progressive, ainsi qu'une déperdition musculaire au niveau des membres inférieurs et supérieurs, souvent accompagnées d'une atteinte du sphincter vélopharyngé à type de dysphagie, de dysphonie et d'insuffisance ventilatoire. L'électromyographie met en évidence des signes de myopathie, et la biopsie musculaire révèle des lésions de myopathie myofibrillaire."},"de":{"name":"Alpha-B Crystallin-abhängige spät beginnende Myopathie","synonyms":["Alpha-B Crystallin-abhängige spät beginnende distale Myopathie","Spät beginnende distale Cristallinopathie"]},"es":{"name":"Miopatía de inicio tardío asociada a alfa-B-cristalina","synonyms":["Cristalinopatía distal de inicio tardío","Miopatía distal de inicio tardío asociada a alfa-B-cristalina"],"definition":"Es una alfa-cristalinopatía genética y poco frecuente caracterizada por miopatía miofibrilar de inicio en adultos, asociada de manera variable a miocardiopatía y/o cataratas del polo posterior. Los pacientes presentan, típicamente, debilidad muscular proximal y distal progresiva y atrofia de las extremidades inferiores y superiores, a menudo asociada a insuficiencia velofaríngea que incluye disfagia, disfonía e insuficiencia ventilatoria. La electromiografía muestra rasgos miopáticos y la biopsia muscular revela cambios miopáticos miofibrilares."},"it":{"name":"Miopatia a esordio tardivo correlata alla alfa - B cristallina","definition":"È un'alfa-cristallinopatia genetica rara, che esordisce nell'età adulta con miopatia miofibrillare, associata a cardiomiopatia e/o cataratta del polo posteriore. Di solito i pazienti presentano debolezza muscolare prossimale e distale progressiva e atrofia degli arti superiori e inferiori, spesso con un interessamento del velo-faringe che esordisce con disfagia, disfonia e insufficienza ventilatoria. L'elettromiografia evidenzia segni caratteristici di miopatia e la biopsia muscolare mostra alterazioni miopatiche miofibrillari."},"nl":{"name":"Alfa B-crystallinegerelateerde myopathie met late aanvang","synonyms":["Alfa B-crystallinegerelateerde distale myopathie met late aanvang","Distale crystallinopathie met late aanvang"],"definition":"Een zeldzame, genetische alfa-crystallinopathie die gekarakteriseerd wordt door aanvang in de volwassenheid van myofibrillaire myopathie, variabel geassocieerd met cardiomyopathie en/of cataracten in de achterpool. Patiënten vertonen doorgaans progressieve zwakte en atrofie van proximale en distale spieren van onderste en bovenste ledematen, vaak met velofaryngeale betrokkenheid waaronder dysfagie, dysfonie en respiratoire insufficiëntie. Elektromyografie toont myopathische kenmerken en onderzoek van spierbiopten toont myopathische veranderingen van myofibrillen."},"pt":{"name":"Miopatia de início tardio alfa-B cristalina-relacionada","synonyms":["Miopatia distal de início tardio relacionado com a alfa-B cristalina"]},"pl":{"name":"Dystlana miopatia o późnym początku związana z Alfa-B krystaliną","synonyms":["Dystlana krystalinopatia o późnym początku"]},"cs":{"name":"Distální myopatie s pozdním nástupem související s alfa-B krystalinem","synonyms":["Distální krystalinopatie s pozdním nástupem"]},"uk":{"name":"Альфа-В-кристалін-залежна міопатія пізнього початку","synonyms":["Альфа-В-кристалінозалежна дистальна міопатія з пізнім початком, повязана з кристаліном","Пізня дистальна кристалінопатія з пізнім початком"],"definition":"A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes."},"zh":{"name":"Alpha-B晶状体蛋白相关迟发性肌病","synonyms":["Alpha-B晶格蛋白相关迟发性远端肌病"],"definition":"本病是一种罕见的遗传性α-结晶性疾病，以成人起病的肌原纤维肌病为特征，与心肌病和/或后极白内障有不同程度的关联。患者通常表现为进行性近端和远端肌肉无力和下肢和上肢消瘦，常伴有腭咽闭合受累，包括吞咽困难、发音困难和通气功能不全。肌电图显示肌病特征，肌肉活检显示肌原纤维肌层改变。"},"tr":{"name":"Alfa-B kristalin-ilişkili geç-başlangıçlı miyopati","synonyms":["Geç başlangıçlı distal kristalinopati","Alfa-B kristaline bağlı geç başlangıçlı distal miyopati"]}},"xrefs":[{"source":"OMIM","code":"608810","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C75","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191079","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98910,"name":"Alpha-crystallinopathy","classifications":[156,181]},{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"CRYAB","name":"crystallin alpha B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20171888[PMID]","hgnc":"2389","ensembl":"ENSG00000109846","omim":"123590","loci":["11q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"21920752[PMID]_9731540[PMID]_14681890[PMID]_20171888[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21920752[PMID]_9731540[PMID]_14681890[PMID]_20171888[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-16","source":"570292[PMID]_8792816[PMID]_21920752[PMID]","terms":[{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030225","label":"Accumulation of muscle fiber desmin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003736","label":"Autophagic vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100299","label":"Muscle fiber inclusion bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100020","label":"Posterior capsular cataract","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null}]}}