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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.

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rdf:type
rdfs:label
  • Kongenitale Muskeldystrophie Typ Ullrich
  • Distrofia muscular congénita de Ullrich
  • Dystrophie congénitale musculaire d'Ullrich
  • Ullrich congenital muscular dystrophy
  • Distrofia muscolare congenita di Ullrich
rdfs:comment
  • 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.​
  • 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 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 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.
  • 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.
foaf:name
  • Ullrich congenital muscular dystrophy
foaf:homepage
name
  • Ullrich congenital muscular dystrophy
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caption
  • Autosomal recessive pattern is the inheritance manner of this condition
synonyms
  • Scleroatonic muscular dystrophy
medication
  • Physical therapy, Surgery
has abstract
  • 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.​
  • 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 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 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.
  • 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.
MeSH ID
  • C537521
causes
  • Mutations in the COL6A1, COL6A2, and COL6A3 gene
diagnosis
  • Physical exam, Medical history
DiseasesDB
GeneReviewsName
  • Collagen Type VI-Related Disorders
GeneReviewsNBK
  • NBK1503
ICD
  • G71.2
MeshID
  • 537521.0
OMIM
Orphanet
symptoms
  • Muscle weakness
DiseasesDB
  • 33679
geneReviewsId
  • NBK1503
geneReviewsName
  • Collagen Type VI-Related Disorders
ICD10
  • G71.2
OMIM id
ORPHA
  • 75840
medical cause
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