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Statements

Subject Item
dbr:Ullrich_congenital_muscular_dystrophy
rdf:type
yago:Illness114061805 yago:Cognition100023271 yago:WikicatGeneticDisorders yago:GeneticDisease114151139 yago:Concept105835747 yago:Complex105870365 yago:Idea105833840 yago:IllHealth114052046 yago:Attribute100024264 yago:PsychologicalFeature100023100 yago:WikicatSyndromes wikidata:Q12136 yago:PhysicalCondition114034177 yago:Whole105869584 yago:Content105809192 yago:Syndrome105870790 owl:Thing yago:PathologicalState114051917 yago:Abstraction100002137 yago:Disease114070360 yago:Condition113920835 yago:State100024720 dbo:Disease
rdfs:label
Distrofia muscular congénita de Ullrich Ullrich congenital muscular dystrophy Dystrophie congénitale musculaire d'Ullrich Distrofia muscolare congenita di Ullrich Kongenitale Muskeldystrophie Typ Ullrich
rdfs:comment
La dystrophie congénitale musculaire d'Ullrich est une maladie génétique musculaire de transmission autosomique récessive en rapport avec des mutations des gènes COL6A1, COL6A2, COL6A3 codant le collagène type VI. Voir l'article. La distrofia muscular congénita de Ullrich es una enfermedad hereditaria grave que provoca debilidad progresiva de los músculos voluntarios. Se clasifica dentro de las distrofias musculares congénitas, las cuales son un subgrupo de las distrofias musculares que se caracterizan por el inicio precoz de los síntomas, generalmente antes de los 2 años de edad.​ Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome. La distrofia muscolare di Ullrich (UCMD, dalla denominazione in inglese Ullrich Congenital Muscolar Dystrophy) è una distrofia muscolare grave caratterizza da debolezza muscolare a insorgenza precoce associata a contratture delle articolazioni prossimali e iperelasticità di quelle distali. È una patologia associata a difetti del collagene VI che si trasmette per modalità autosomica recessiva, benché in alcuni casi si possa dimostrare una modalità di trasmissione del tipo autosomico dominante. È stata descritta per la prima volta nel 1930 dal pediatra tedesco Otto Ullrich. Die Kongenitale Muskeldystrophie Typ Ullrich ist eine sehr seltene angeborene Form der Muskeldystrophie mit den Hauptmerkmalen früher Krankheitsbeginn, allgemeine, langsam zunehmende Muskelschwäche, Gelenkkontrakturen, vermehrte Beweglichkeit der distalen Gelenke und normale Intelligenz. Synonyme sind: Ullrich-Myopathie; Muskeldystrophie, sklero-atonische; Ullrich-CMD (UCMD) Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung aus dem Jahre 1930 durch Otto Ullrich.
foaf:name
Ullrich congenital muscular dystrophy
foaf:homepage
n21:www.guideline.gov
dbp:name
Ullrich congenital muscular dystrophy
foaf:depiction
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dcterms:subject
dbc:Collagen_disease dbc:Myoneural_junction_and_neuromuscular_diseases
dbo:wikiPageID
23489046
dbo:wikiPageRevisionID
1119588311
dbo:wikiPageWikiLink
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dbo:wikiPageExternalLink
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dbo:thumbnail
n18:Autosomal_recessive_-_en.svg?width=300
dbp:diagnosis
Physical exam, Medical history
dbp:diseasesdb
33679
dbp:icd
G71.2
dbp:meshid
537521.0
dbp:omim
254090
dbp:orphanet
75840
dbp:symptoms
Muscle weakness
dbp:caption
Autosomal recessive pattern is the inheritance manner of this condition
dbp:causes
Mutations in the COL6A1, COL6A2, and COL6A3 gene
dbp:synonyms
Scleroatonic muscular dystrophy
dbo:abstract
Die Kongenitale Muskeldystrophie Typ Ullrich ist eine sehr seltene angeborene Form der Muskeldystrophie mit den Hauptmerkmalen früher Krankheitsbeginn, allgemeine, langsam zunehmende Muskelschwäche, Gelenkkontrakturen, vermehrte Beweglichkeit der distalen Gelenke und normale Intelligenz. Synonyme sind: Ullrich-Myopathie; Muskeldystrophie, sklero-atonische; Ullrich-CMD (UCMD) Die Bezeichnung bezieht sich auf den Autor der Erstbeschreibung aus dem Jahre 1930 durch Otto Ullrich. La distrofia muscolare di Ullrich (UCMD, dalla denominazione in inglese Ullrich Congenital Muscolar Dystrophy) è una distrofia muscolare grave caratterizza da debolezza muscolare a insorgenza precoce associata a contratture delle articolazioni prossimali e iperelasticità di quelle distali. È una patologia associata a difetti del collagene VI che si trasmette per modalità autosomica recessiva, benché in alcuni casi si possa dimostrare una modalità di trasmissione del tipo autosomico dominante. È stata descritta per la prima volta nel 1930 dal pediatra tedesco Otto Ullrich. La distrofia muscular congénita de Ullrich es una enfermedad hereditaria grave que provoca debilidad progresiva de los músculos voluntarios. Se clasifica dentro de las distrofias musculares congénitas, las cuales son un subgrupo de las distrofias musculares que se caracterizan por el inicio precoz de los síntomas, generalmente antes de los 2 años de edad.​ Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome. La dystrophie congénitale musculaire d'Ullrich est une maladie génétique musculaire de transmission autosomique récessive en rapport avec des mutations des gènes COL6A1, COL6A2, COL6A3 codant le collagène type VI. Voir l'article.
dbp:genereviewsname
Collagen Type VI-Related Disorders
dbp:genereviewsnbk
NBK1503
dbp:medication
Physical therapy, Surgery
dbo:geneReviewsId
NBK1503
dbo:geneReviewsName
Collagen Type VI-Related Disorders
dbo:medicalCause
dbr:COL6A2
gold:hypernym
dbr:Form
dbo:meshId
C537521
prov:wasDerivedFrom
wikipedia-en:Ullrich_congenital_muscular_dystrophy?oldid=1119588311&ns=0
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10635
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33679
dbo:icd10
G71.2
dbo:omim
254090
dbo:orpha
75840
foaf:isPrimaryTopicOf
wikipedia-en:Ullrich_congenital_muscular_dystrophy