Ullrich congenital muscular dystrophy
Other Names for this Disease
- Ullrich disease
- Ullrich scleroatonic muscular dystrophy
- Late onset scleroatonic familial myopathy (subtype)
- Scleroatonic muscular dystrophy
contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern.Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (
Last updated: 3/4/2014
- Ullrich congenital muscular dystrophy. Genetics Home Reference (GHR). October 2010; http://ghr.nlm.nih.gov/condition/ullrich-congenital-muscular-dystrophy. Accessed 3/4/2014.
- Genetics Home Reference (GHR) contains information on Ullrich congenital muscular dystrophy. This website is maintained by the National Library of Medicine.
- The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Ullrich congenital muscular dystrophy. Click on the link to view a sample search on this topic.