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Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles, which are the muscles used for movement. Affected individuals show muscle weakness soon after birth. The muscle weakness is typically severe, and most affected people cannot walk unassisted; some affected children are able to walk but progressive weakness impairs walking later in life. Individuals with this condition develop joint stiffness (contractures) in many of their joints, including neck, hips, and knees, which can restrict movement. They may also have an unusually large range of joint movement (hypermobility) in their fingers, wrists, toes, and ankles. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation).
Some people with Ullrich congenital muscular dystrophy have skin abnormalities such as small bumps called follicular hyperkeratosis that develop around the elbows and knees; soft, velvety skin of the palms and soles; and wounds that split open with little bleeding and widen over time to create shallow scars.
Ullrich congenital muscular dystrophy is estimated to occur in 1 in 1 million individuals.
Mutations in the COL6A1, COL6A2, and COL6A3 genes cause Ullrich congenital muscular dystrophy. These genes each provide instructions for making one component of a protein called type VI collagen. Collagens are proteins that strengthen and support connective tissues, which provide strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. Type VI collagen plays an important role in muscle, particularly skeletal muscle.
Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells. The extracellular matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix that surrounds muscle cells is necessary for muscle cell stability and growth.
Mutations in the type VI collagen genes that cause Ullrich congenital muscular dystrophy result in an abnormal type VI collagen or in a severe shortage (deficiency) in its production. Altered or deficient type VI collagen in the extracellular matrix surrounding muscle cells leads to muscle weakness and the other signs and symptoms of Ullrich congenital muscular dystrophy.
Because Ullrich congenital muscular dystrophy is caused by mutations in genes that lead to the production of type VI collagen, it is part of a larger disorder known as collagen VI-related muscular dystrophy.
Changes in these genes are associated with Ullrich congenital muscular dystrophy.
Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This condition can also be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
These resources address the diagnosis or management of Ullrich congenital muscular dystrophy and may include treatment providers.
You might also find information on the diagnosis or management of Ullrich congenital muscular dystrophy in Educational resources and Patient support.
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
You may find the following resources about Ullrich congenital muscular dystrophy helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).
autosomal ; autosomal dominant ; autosomal recessive ; cell ; collagen ; congenital ; deficiency ; extracellular ; extracellular matrix ; gene ; hypermobility ; inherited ; joint ; muscle cell ; muscle cells ; muscular dystrophy ; protein ; recessive ; respiratory ; skeletal muscle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.