About: Ullrich congenital muscular dystrophy

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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	Thing Disease yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Kongenitale Muskeldystrophie Typ Ullrich (de) Distrofia muscular congénita de Ullrich (es) Dystrophie congénitale musculaire d'Ullrich (fr) Distrofia muscolare congenita di Ullrich (it) Ullrich congenital muscular dystrophy (en)
rdfs:comment	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. (de) 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. (fr) 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. (es) 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. (en) 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. (it)
foaf:name	Ullrich congenital muscular dystrophy (en)
foaf:homepage	http://www.guideline.gov
name	Ullrich congenital muscular dystrophy (en)
foaf:depiction
dcterms:subject	Myoneural junction and neuromuscular diseases Collagen disease
Wikipage page ID	23489046 (xsd:integer)
Wikipage revision ID	1119588311 (xsd:integer)
Link from a Wikipage to another Wikipage	Rotenone Scoliosis Muscle Biopsy Hyperkeratosis Bethlem myopathy Myoneural junction and neuromuscular diseases Ehlers–Danlos syndrome Emery–Dreifuss muscular dystrophy Congenital muscular dystrophy Contracture Otto Ullrich Limb-girdle muscular dystrophy MRI Autosomal recessive Turner syndrome Collagen disease Collagen COL6A2 COL6A3 Muscular dystrophy Tracheostomy Contractures COL6A1 Cyclosporine A dbr:Autosomal_recessive_myosclerosis dbr:RYR1-associated_multiminicore_disease
Link from a Wikipage to an external page	https://web.archive.org/web/20160408034807/http:/www.guideline.gov/content.aspx%3Fid=49881%7Carchive-date=2016-04-08%7Curl-status=dead http://www.guideline.gov/content.aspx%3Fid=49881&search=Ullrich+congenital+muscular+dystrophy%7Ctitle=National https://books.google.com/books%3Fid=SjfKybobUIYC%7Ctitle=Encyclopedia http://brain.oxfordjournals.org/content/brain/132/1/147.full.pdf%7Caccess-date=12
sameAs	Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy
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thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300

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