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Genetics Home Reference: your guide to understanding genetic conditions
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Ullrich congenital muscular dystrophy

Reviewed October 2010

What is Ullrich congenital muscular dystrophy?

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 are not able to walk unassisted. Individuals with this condition develop joint stiffness (contractures) in their knees and elbows that can restrict movement. They also have an unusually large range of joint movement (hypermobility) in their wrists and ankles. The respiratory muscles may also be weakened, requiring people to use a machine to help them breathe at night (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.

How common is Ullrich congenital muscular dystrophy?

Ullrich congenital muscular dystrophy is estimated to occur in 1 in 1 million individuals.

What genes are related to Ullrich congenital muscular dystrophy?

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. This protein 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 absence or severe shortage (deficiency) of type VI collagen. A lack of 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.

Related Gene(s)

Changes in these genes are associated with Ullrich congenital muscular dystrophy.

  • COL6A1
  • COL6A2
  • COL6A3

How do people inherit 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.

Where can I find information about diagnosis or management of Ullrich congenital muscular dystrophy?

These resources address the diagnosis or management of Ullrich congenital muscular dystrophy and may include treatment providers.

  • Cleveland Clinic: Muscular Dystrophy (http://my.clevelandclinic.org/disorders/muscular_dystrophy/hic_muscular_dystrophy.aspx)
  • Gene Review: Collagen Type VI-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1503/)
  • Genetic Testing Registry: Ullrich congenital muscular dystrophy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179)
  • Muscular Dystrophy Campaign (UK): Could Cyclosporine A be used to treat Bethlem myopathy and Ullrich congenital muscular dystrophy? (http://www.muscular-dystrophy.org/research/news/871_could_cyclosporine_a_be_used_to_treat_bethlem_myopathy_and_ullrich_congenital_muscular_dystrophy)

You might also find information on the diagnosis or management of Ullrich congenital muscular dystrophy in Educational resources (http://www.ghr.nlm.nih.gov/condition/ullrich-congenital-muscular-dystrophy/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/ullrich-congenital-muscular-dystrophy/show/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.

Where can I find additional information about Ullrich congenital muscular dystrophy?

You may find the following resources about Ullrich congenital muscular dystrophy helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Contracture Deformity (http://www.nlm.nih.gov/medlineplus/ency/article/003185.htm)
    • Health Topic: Muscle Disorders (http://www.nlm.nih.gov/medlineplus/muscledisorders.html)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Neurological Disorders and Stroke: Muscular Dystrophy Information Page (http://www.ninds.nih.gov/disorders/md/md.htm)

  • Educational resources - Information pages

    • Cleveland Clinic: Muscular Dystrophy (http://my.clevelandclinic.org/disorders/muscular_dystrophy/hic_muscular_dystrophy.aspx)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=75840)
    • Washington University, St. Louis: Neuromuscular Disease Center (http://neuromuscular.wustl.edu/syncm.html)

  • Patient support - For patients and families

    • CLIMB: Children Living with Inherited Metabolic Diseases (http://www.climb.org.uk/)
    • Family Village: Muscular Dystrophy (http://www.familyvillage.wisc.edu/lib_md.htm)
    • Muscular Dystrophy Association (http://mda.org/)
    • Muscular Dystrophy Campaign (UK) (http://www.muscular-dystrophy.org/about_muscular_dystrophy/conditions/1814_ullrich_congenital_muscular_dystrophy)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1178/viewAbstract)
    • University of Kansas Medical Center Resource List: Muscular Dystrophy/Atrophy (http://www.kumc.edu/gec/support/muscular.html)
    • WE MOVE: Worldwide Education and Awareness for Movement Disorders (http://www.wemove.org/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1503/)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Ullrich congenital muscular dystrophy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22Ullrich%20congenital%20muscular%20dystrophy%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(ullrich%20congenital%20muscular%20dystrophy%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/254090)

What other names do people use for Ullrich congenital muscular dystrophy?

  • UCMD
  • Ullrich disease
  • Ullrich scleroatonic muscular dystrophy

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.

What if I still have specific questions about Ullrich congenital muscular dystrophy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Ullrich congenital muscular dystrophy?

autosomal ; autosomal dominant ; autosomal recessive ; cell ; collagen ; congenital ; deficiency ; extracellular ; extracellular matrix ; gene ; hypermobility ; joint ; muscular dystrophy ; protein ; recessive ; respiratory ; skeletal muscle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. Epub 2004 Nov 24. (http://www.ncbi.nlm.nih.gov/pubmed/15563506?dopt=Abstract)
  • Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet. 2005 Sep;42(9):673-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16141002?dopt=Abstract)
  • Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. (http://www.ncbi.nlm.nih.gov/pubmed/18366090?dopt=Abstract)

 

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.

 
Reviewed: October 2010
Published: May 20, 2013