Ullrich congenital muscular dystrophy: Difference between revisions

UCMD is commonly associated with [[contracture]]s, [[Hypermobility (joints)|joint laxity]], [[muscle weakness]] and [[Respiratory disease|respiratory problems]], though cardiac issues are not associated with this type of CMD.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/|title=Ullrich congenital muscular dystrophy - Conditions - GTR - NCBI|website=www.ncbi.nlm.nih.gov|access-date=2016-05-11|archive-date=2016-09-15|archive-url=https://web.archive.org/web/20160915223104/http://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/|url-status=live}}</ref><ref name="nih">{{Cite book |url=http://www.ncbi.nlm.nih.gov/books/NBK1503/ |title=GeneReviews® |first1=A. Reghan |last1=Foley |first2=Payam |last2=Mohassel |first3=Sandra |last3=Donkervoort |first4=Véronique |last4=Bolduc |first5=Carsten G. |last5=Bönnemann |chapter=Collagen VI-Related Dystrophies |editor-first1=Margaret P. |editor-last1=Adam |editor-first2=Holly H. |editor-last2=Ardinger |editor-first3=Roberta A. |editor-last3=Pagon |editor-first4=Stephanie E. |editor-last4=Wallace |editor-first5=Lora JH |editor-last5=Bean |editor-first6=Karen W. |editor-last6=Gripp |editor-first7=Ghayda M. |editor-last7=Mirzaa |editor-first8=Anne |editor-last8=Amemiya |date=January 31, 1993 |publisher=University of Washington, Seattle |pmid=20301676 |access-date=November 11, 2012 |archive-date=August 13, 2020 |archive-url=https://web.archive.org/web/20200813012631/https://www.ncbi.nlm.nih.gov/books/NBK1503/ |url-status=live }}</ref> It is named after [[Otto Ullrich]], who is also known for the [[Turner syndrome|Ullrich-Turner syndrome]].<ref>{{Cite journal |last=Ullrich |first=O. Ullrich:|date=1930-12 ''|title=Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems.'' In|url=http://link.springer.com/10.1007/BF02864097 ''|journal=Zeitschrift für die gesamte Neurologie und Psychiatrie.'' |language=de |volume=126, 1930,|issue=1 p.&nbsp;171,|pages=171–201 [[|doi:=10.1007/BF02864097]]. |issn=0303-4194}}</ref>

This includes<ref name="Bushby2014">{{Cite journal |last=Bushby KM,|first=Kate M. D. |last2=Collins J,|first2=James |last3=Hicks D|first3=Debbie (|date=2014) |title=Collagen type VI myopathies |url=https://pubmed.ncbi.nlm.nih.gov/24443028/ Adv|journal=Advances Expin MedExperimental BiolMedicine and Biology |volume=802:185 |pages=185–199 |doi=10.1007/978-19994-007-7893-1_12 |issn=0065-2598 |pmid=24443028}}</ref>