{"orpha":157973,"name":"Congenital muscular dystrophy due to LMNA mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["L-CMD","LMNA-related congenital muscular dystrophy"],"definition":"A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157973/","orphanet_url":"https://www.orpha.net/en/disease/detail/157973","names":{"fr":{"name":"Dystrophie musculaire congénitale due à une mutation de LMNA","synonyms":["Dystrophie musculaire congénitale liée à LMNA","L-CMD"],"definition":"Dystrophie musculaire congénitale rare caractérisée par une hypotonie axiale importante, principalement à type de faiblesse musculaire proximale des membres supérieurs et distale des membres inférieurs, de contractures articulaires (affectant d'abord les muscles distaux, puis les muscles proximaux), de rigidité de la colonne vertébrale et d'insuffisance respiratoire progressive, en présence d'un taux sérique modérément élevé de créatine kinase. Des cas d'arythmies cardiaques et de mort subite cardiaque ont également été rapportés."},"de":{"name":"Muskeldystrophie, kongenitale, durch Lamin-A/C-Mangel","synonyms":["L-CMD","LMNA-abhängige kongenitale Muskeldystrophie"],"definition":"Eine seltene kongenitale Muskeldystrophie, die durch eine ausgeprägte axiale Hypotonie, eine vorwiegend proximale Muskelschwäche in den oberen Gliedmaßen und eine distale in den unteren Gliedmaßen, Gelenkkontrakturen (zunächst distal, später proximal), Wirbelsäulensteifigkeit und fortschreitende respiratorische Insuffizienz bei mäßig erhöhter Kreatinkinase im Serum gekennzeichnet ist. Es wurde auch über Herzrhythmusstörungen und plötzlichen Tod berichtet."},"es":{"name":"Distrofia muscular congénita por una mutación en el gen LMNA","synonyms":["Distrofia muscular congénita asociada a LMNA","L-CMD"],"definition":"Es una distrofia muscular congénita poco frecuente caracterizada por una hipotonía axial prominente, debilidad muscular predominantemente proximal en las extremidades superiores/ distal en las extremidades inferiores, contracturas articulares (inicialmente distales, posteriormente proximales), rigidez de la columna vertebral e insuficiencia respiratoria progresiva, en presencia de una elevación moderada de creatinquinasa sérica. También se handescrito arritmias cardíacas y muerte súbita."},"it":{"name":"Distrofia muscolare congenita da mutazione di LMNA","synonyms":["Distrofia muscolare congenita legata a LMNA","L-CMD"],"definition":"La distrofia muscolare congenita da mutazione di LMNA (L-CMD) è una distrofia muscolare congenita rara, caratterizzata da marcata ipotonia assiale, debolezza muscolare per lo più prossimale negli arti superiori e distale negli arti inferiori, contratture articolari (inizialmente distali e successivamente prossimali), rigidità della colonna vertebrale, insufficienza respiratoria progressiva e moderato aumento dei livelli di creatin-chinasi nel siero. Alcuni pazienti presentano aritmie cardiache e morte improvvisa."},"nl":{"name":"Congenitale spierdystrofie door LMNA-mutatie","synonyms":["L-CMD","LMNA-gerelateerde congenitale spierdystrofie"],"definition":"Een zeldzame congenitale spierdystrofie, gekarakteriseerd door uitgesproken axiale hypotonie, overwegend proximale spierzwakte in bovenste ledematen en distale spierzwakte in onderste ledematen, gewrichtscontracturen (initieel distaal, later proximaal), rigiditeit van wervelkolom, en progressieve respiratoire insufficiëntie, in aanwezigheid van matig verhoogd creatinekinase in serum. Hartritmestoornissen en plots overlijden werden ook reeds gerapporteerd."},"pt":{"name":"Distrofia muscular congénita relacionada com laminopatia"},"pl":{"name":"Wrodzona dystrofia mięśniowa spowodowana mutacją LMNA","synonyms":["L-CMD","Wrodzona dystrofia mięśniowa związana z LMNA"]},"cs":{"name":"Vrozená svalová dystrofie na podkladě mutací genu LMNA","synonyms":["L-CMD","LMNA-vázaná vrozená svalová dystrofie"]},"uk":{"name":"Вроджена мязова дистрофія внаслідок мутації LMNA","synonyms":["L-CMD","Вроджена мязова дистрофія, повязана з LMNA"],"definition":"A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported."},"zh":{"name":"LMNA基因突变先天性肌营养不良","synonyms":["LMNA基因相关先天性肌营养不良"],"definition":"LMNA基因突变所致的先天性肌营养不良是一种罕见的先天性肌营养不良症，其特征是轴向肌张力显著低下，头下垂综合征，主要表现为上肢/下肢近端肌无力(运动发育不良或缺失)，关节挛缩(最初为远端，后累及近端)，脊柱僵硬以及血清肌酸激酶中度升高的早期呼吸功能不全。心律失常和猝死也有报道。"},"tr":{"name":"LMNA mutasyonuna bağlı doğumsal kas distrofisi","synonyms":["L-CMD","LMNA-ilişkili doğumsal kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"613205","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013178","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567708","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750785","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":300755,"name":"Laminopathy with striated muscle involvement","classifications":[156]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18551513[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28125586[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"28125586[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18551513[PMID]","terms":[{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null}]}}