{"orpha":258,"name":"Laminin subunit alpha 2-related congenital muscular dystrophy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CMD1A","Congenital muscular dystrophy due to laminin alpha2 deficiency","Congenital muscular dystrophy type 1A","MDC1A","Merosin-negative congenital muscular dystrophy"],"definition":"A rare congenital muscular dystrophy characterized by severe hypotonia, muscle weakness and muscle wasting presenting at birth or during infancy, poor spontaneous movements and contractures of the large joints. Patients have poor motor development leading to feeding and respiratory issues.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-258/","orphanet_url":"https://www.orpha.net/en/disease/detail/258","names":{"fr":{"name":"Dystrophie musculaire congénitale liée à la sous-unité alpha 2 de la laminine","synonyms":["CMD1A","DMC1A","Dystrophie musculaire congénitale avec déficit primaire en mérosine","Dystrophie musculaire congénitale par déficit en laminine alpha 2","Dystrophie musculaire congénitale type 1A","MDC1A"],"definition":"Dystrophie musculaire congénitale rare caractérisée par une hypotonie sévère, une faiblesse musculaire, une fonte musculaire se manifestant à la naissance ou pendant la petite enfance, de faibles mouvements spontanés et des contractures affectant les grosses articulations. Les patients connaissent un développement moteur insuffisant, entraînant des troubles alimentaires et respiratoires."},"de":{"name":"Muskeldystrophie, kongenitale, durch Laminin-alpha 2-Mangel","synonyms":["LAMA2-assoziierte kongenitale Muskeldystrophie","MDC1A","Muskeldystrophie, kongenitale, Merosin-negativ","Muskeldystrophie, kongenitale, Typ 1A","CMD1A","LAMA2-CMD"],"definition":"Eine seltene kongenitale Muskeldystrophie, die durch schwere Hypotonie, Muskelschwäche und Muskelschwund bei der Geburt oder im Säuglingsalter, schlechte Spontanbewegungen und Kontrakturen der großen Gelenke gekennzeichnet ist. Die Kinder zeigen eine schlechte motorische Entwicklung, was zu Problemen bei der Nahrungsaufnahme und der Atmung führt."},"es":{"name":"Distrofia muscular congénita asociada a la subunidad alfa 2 de la laminina","synonyms":["CMD1A","Distrofia muscular congénita merosina negativa","Distrofia muscular congénita por deficiencia de laminina alfa 2","Distrofia muscular congénita tipo 1A","MDC1A"],"definition":"Es una distrofia muscular congénita poco frecuente caracterizada por hipotonía grave, debilidad y atrofia muscular que se presenta al nacimiento o en el periodo de lactante, escasa movilidad espontánea y contracturas de las grandes articulaciones. Los pacientes presentan un desarrollo motor deficiente que provoca problemas respiratorios y de alimentación."},"it":{"name":"Distrofia muscolare congenita, tipo 1A","synonyms":["CMD1A","Distrofia muscolare congenita da deficit di laminina alfa2","Distrofia muscolare congenita merosina-negativa","MDC1A"]},"nl":{"name":"Congenitale spierdystrofie type 1A","synonyms":["CMD1A","Congenitale spierdystrofie als gevolg van laminine alfa-2-deficiëntie","MDC1A","Merosinenegatieve congenitale spierdystrofie"],"definition":"Een zeldzame congenitale spierdystrofie, gekenmerkt door ernstige hypotonie, spierzwakte en spieratrofie die zich presenteren bij de geboorte of in de zuigelingentijd, ondermaatse spontane bewegingen, en contracturen van de grote gewrichten. Patiënten hebben een slechte motorische ontwikkeling, wat leidt tot problemen met voeding en ademhaling."},"pt":{"name":"Distrofia muscular congénita associada à subunidade alfa 2 da laminina","synonyms":["Distrofia muscular congénita merosina negativa"]},"pl":{"name":"Wrodzona dystrofia mięśniowa typu 1","synonyms":["CMD1A","MDC1A","Merozyno-ujemna wrodzona dystrofia mięśniowa","Wrodzona dystrofia mięśniowa spowodowana niedoborem laminy alfa2"],"definition":"Wrodzona dystrofia mięśniowa typu 1A należy do grupy chorób nerwowo-mięśniowych o początku objawów po urodzeniu lub w dzieciństwie. Charakteryzuje się hipotonią oraz osłabieniem i zanikiem mięśni."},"cs":{"name":"Vrozená svalová dystrofie, typ 1A","synonyms":["CMD1A","MDC1A","Merozin-negativní vrozená svalová dystrofie","Vrozená svalová dystrofie způsobená deficitem laminin alfa2"]},"uk":{"name":"Вроджена мязова дистрофія, повязана з ламініновою субодиницею альфа-2","synonyms":["CMD1A","Вроджена мязова дистрофія внаслідок дефіциту ламініну альфа2","Вроджена мязова дистрофія типу 1А","MDC1A","Мерозин-негативна вроджена мязова дистрофія"],"definition":"Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting."},"zh":{"name":"层粘连蛋白α2亚基相关性先天性肌营养不良症","synonyms":["层粘连蛋白α2亚基缺乏所致先天性肌营养不良"]},"tr":{"name":"Laminin alt birim alfa 2--ilişkili doğumsal kas distrofisi","synonyms":["CMD1A","MDC1A","Doğumsal kas distrofisi tip 1A","Merozin-negatif doğumsal kas distrofisi","Laminin alfa2 eksikliğine bağlı doğumsal kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"607855","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"11925","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537384","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1263858","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3843","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1877,"name":"Muscular dystrophy-white matter spongiosis syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":207094,"name":"Laminin subunit alpha 2-related muscular dystrophy","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LAMA2","name":"laminin subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24223650[PMID]_22675738[PMID]","hgnc":"6482","ensembl":"ENSG00000196569","omim":"156225","loci":["6q22.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Worldwide","status":"Validated","source":"37005889[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Eastern Mediterranean Asia","status":"Validated","source":"37005889[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"37005889[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-28","source":"24778697[PMID]_9185183[PMID]_17628813[PMID]","terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030091","label":"Absent muscle fiber merosin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030234","label":"Highly elevated creatine kinase","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009025","label":"Increased connective tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012747","label":"Abnormal brainstem MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010754","label":"Abnormality of the temporomandibular joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002446","label":"Astrocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004878","label":"Intercostal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006879","label":"Pontocerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very rare (<4-1%)","criteria":null}]}}