Collagen VI-related dystrophy is a rare genetic condition that is associated with defects in the production of collagen VI, a protein that helps support connective tissue in the body. The condition is typically inherited in an autosomal dominant manner, meaning that each affected individual has a 50% chance of passing on the genetic mutation to their offspring.

Collagen VI-related dystrophy is typically diagnosed in infancy or childhood, as affected individuals often have symptoms such as muscle weakness and joint contractures that make it difficult to walk. Other features of the condition include delayed wound healing and instability of connective tissue, which can lead to additional joint problems.

Scientific articles about collagen VI-related dystrophy can be found in pubmed, and more information about the condition and its genetic causes can be found in the OMIM catalog. There are also advocacy resources available for patients and their families to learn about the condition and connect with others who have similar experiences.

Frequency

Collagen VI-related dystrophy is a rare genetic disorder that affects the connective tissue. The frequency of this condition is not well defined, but it is estimated to occur in approximately 1 in 100,000 to 1 in 300,000 individuals worldwide.

There are three forms of collagen VI-related dystrophy: Bethlem myopathy, Ullrich congenital muscular dystrophy (UCMD), and an intermediate form. Each form is characterized by specific symptoms and severity.

Bethlem myopathy is the mildest form of collagen VI-related dystrophy. It usually begins in infancy or early childhood and primarily affects the muscles and joints. Patients with Bethlem myopathy may have a slightly increased risk of developing joint contractures and may have difficulty walking or have a waddling gait. Despite these challenges, individuals with Bethlem myopathy can usually lead relatively normal lives and have a near-normal life expectancy.

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UCMD is a more severe form of collagen VI-related dystrophy. It is typically present at birth and causes significant muscle weakness and joint contractures. Children with UCMD often have delayed motor milestones, such as sitting, crawling, and walking. They may require assistance with mobility and have a shorter life expectancy compared to individuals with Bethlem myopathy.

The intermediate form of collagen VI-related dystrophy has symptoms that fall between those of Bethlem myopathy and UCMD in terms of severity. The specific symptoms and disease course can vary widely between individuals with this form of the condition.

Collagen VI-related dystrophy is caused by mutations in the COL6A1, COL6A2, or COL6A3 genes. These genes provide instructions for making proteins that are essential for the production and stability of collagen VI. Mutations in any of these genes can disrupt collagen VI production, leading to the symptoms associated with the condition.

The diagnosis of collagen VI-related dystrophy is typically confirmed through genetic testing. This testing can identify mutations in the COL6A1, COL6A2, or COL6A3 genes. Additional testing, such as muscle biopsies, may be performed to evaluate the presence of collagen VI abnormalities.

There are several resources available for individuals and families affected by collagen VI-related dystrophy. The Collagen VI-related Dystrophy International Advocacy and Support Center provides information, support, and advocacy for patients and their families. The center also maintains a catalog of scientific articles, research studies, and other resources on collagen VI-related dystrophy.

For more information about collagen VI-related dystrophy, you may visit the following websites:

• OMIM: Online Mendelian Inheritance in Man (www.omim.org)
• PubMed: Search database for scientific references (www.ncbi.nlm.nih.gov/pubmed)
• Bonnemann Lab: Learn more about research on collagen VI-related myopathies (www.bonnemannlab.org)

It is important to note that collagen VI-related dystrophy is a rare genetic disorder, and the information provided here is a general overview. Each patient’s experience with the condition can vary, and individualized care and management plans should be developed in consultation with healthcare professionals.

Causes

The condition known as Collagen VI-related dystrophy is associated with mutations in the COL6A1, COL6A2, or COL6A3 genes, which play a role in collagen production. There are different forms of Collagen VI-related dystrophy, including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy, which are two rare forms.

Most cases of Collagen VI-related dystrophy begin in infancy or early childhood, which means that patients with this condition typically have symptoms from a young age. These symptoms may include muscle weakness, joint hypermobility, and difficulty with motor skills such as walking.

Collagen VI-related dystrophy is a genetic condition, meaning it is inherited from parents who carry the mutated genes. Inheritance patterns can differ depending on the specific form of the condition. UCMD and Bethlem myopathy are typically inherited in an autosomal recessive pattern, where both parents must be carriers of the mutated gene for their child to be affected. However, there are also rare cases where a new mutation occurs in an individual with no family history of the condition.

Additional information about the genetics of Collagen VI-related dystrophy and related myopathies can be found in research articles and databases such as PubMed, OMIM, and the Collagen VI-related dystrophy section of the Muscular Dystrophy Association’s online catalog.

Collagen VI-related dystrophies are characterized by defects in collagen production, which can affect the connective tissue and muscles of the body. Collagen is an essential protein that provides support and stability to tissues throughout the body, and its dysfunction can lead to a wide range of symptoms.

Patients with Collagen VI-related dystrophy may also have delayed wound healing and other issues related to the connective tissue. Support and resources for patients and their families can be found through advocacy and support groups, as well as centers specializing in the care of individuals with genetic muscle diseases.

Testing for mutations in the COL6A1, COL6A2, and COL6A3 genes can help confirm a diagnosis of Collagen VI-related dystrophy. Genetic testing can be obtained through specialized laboratories or genetic diagnostic centers. It is important to consult with a healthcare professional for more information and guidance on testing and diagnosis.

Learn more about the genes associated with Collagen VI-related dystrophy

Collagen VI-related dystrophy is a group of rare genetic diseases that affect the production and stability of collagen type VI, a protein that is important for the structure and healing of connective tissues. These conditions can be inherited from one or both parents and typically manifest in infancy or childhood, causing muscle weakness and other symptoms.

There are three genes associated with Collagen VI-related dystrophy: COL6A1, COL6A2, and COL6A3. Mutations in these genes can lead to different forms of the condition, with COL6A1 mutations causing Ullrich congenital muscular dystrophy, COL6A2 mutations causing intermediate Collagen VI-related myopathy, and COL6A3 mutations causing Bethlem myopathy.

Children with Collagen VI-related dystrophy often have weak muscles and may experience difficulty walking or performing other physical tasks. The condition may also cause joint abnormalities and contractures, leading to limited mobility. Rarely, individuals with this condition may have associated complications such as scoliosis or respiratory problems.

To confirm a diagnosis of Collagen VI-related dystrophy, genetic testing can be performed to evaluate the COL6A1, COL6A2, and COL6A3 genes. Testing can help identify specific mutations and guide treatment and management strategies.

For more information about Collagen VI-related dystrophy and associated genes, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) catalog or scientific articles. These sources provide detailed information about the condition, its inheritance patterns, and the genetic variants that can cause it. There are also genetic advocacy and support groups that provide resources for patients and families affected by Collagen VI-related dystrophy.

References:

• Bonnemann, C. G. (2011). The collagen VI-related myopathies: muscle meets its matrix. Nature Reviews Neurology, 7(7), 379-390.
• Collagen VI-related dystrophy. (n.d.). In Genetics Home Reference. Retrieved October 1, 2021, from https://medlineplus.gov/genetics/condition/collagen-vi-related-dystrophy/
• Learn about Collagen VI-related dystrophy. (n.d.). In Muscular Dystrophy Association. Retrieved October 1, 2021, from https://www.mda.org/disease/collagen-vi-related-dystrophy

Inheritance

Collagen VI-related dystrophy is caused by genetic mutations in the collagen VI genes. There are three collagen VI genes: COL6A1, COL6A2, and COL6A3. These genes provide instructions for making collagen VI, a protein that is important for the structure and stability of connective tissue.

The inheritance of collagen VI-related dystrophy is typically autosomal recessive, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Genetic testing can be performed to identify mutations in the collagen VI genes. This kind of testing can confirm a diagnosis of collagen VI-related dystrophy and can help identify family members who may also carry the mutation.

Patient advocacy groups and resources, such as the Collagen VI Alliance and the Congenital Muscle Disease International Registry, provide additional information and support for individuals and families affected by collagen VI-related dystrophy.

Other Names for This Condition

Collagen VI-related dystrophy has several other names, which include:

• Collagen VI myopathies
• COLVI myopathy
• Bonnemann myopathy
• Ullrich congenital muscular dystrophy

These names are used to describe different forms of the condition, each with its own characteristics and clinical features.

Collagen VI-related dystrophy is a rare genetic disorder that affects the production of collagen, a protein that provides support and stability to connective tissue. It is typically associated with mutations in the COL6A1, COL6A2, and COL6A3 genes.

Patients with collagen VI-related dystrophy may experience muscle weakness and joint contractures, making it difficult for them to walk and perform everyday activities. The condition can present from infancy to childhood and usually causes a range of clinical symptoms, including delayed motor milestones, muscle pain, and fatigue.

Clinical testing is necessary to confirm a diagnosis of collagen VI-related dystrophy. Genetic testing can identify mutations in the COL6A1, COL6A2, and COL6A3 genes, while muscle biopsy can reveal abnormalities in collagen VI production. Additional testing may be required to rule out other genetic disorders and to provide a more accurate diagnosis.

There are a number of resources available for patients and families affected by collagen VI-related dystrophy. Advocacy organizations, such as the Collagen VI Alliance and CureCMD, provide information, support, and resources for individuals with the condition. Scientific literature, such as articles in PubMed and the OMIM catalog, also offer valuable information about the condition and associated myopathies.

Overall, collagen VI-related dystrophy is a rare condition that can have a significant impact on the lives of those affected. More research is needed to better understand the causes and frequency of the condition, as well as to develop effective treatments and interventions to improve patient outcomes.

Additional Information Resources

Here are some additional resources to learn more about Collagen VI-related dystrophy:

• Genetic Testing: To confirm the genetic cause of Collagen VI-related dystrophy, genetic testing can be conducted. This can help identify the specific gene mutations responsible for the condition.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information about genes, genetic disorders, and traits.
• Academic Articles: PubMed is a widely-used database that contains scientific articles on various topics, including Collagen VI-related dystrophy. It can be a valuable resource for researchers and healthcare professionals.
• Patient Advocacy Organizations: Patient advocacy organizations, such as the Collagen VI-related dystrophy Foundation, provide support and resources for individuals and families affected by the condition. They may offer information, support groups, and assistance in finding healthcare providers specialized in this rare disease.

It is important to note that Collagen VI-related dystrophy is a rare condition, and information and resources may be limited. However, these resources can provide a starting point for individuals and families who need more information and support.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing Collagen VI-related dystrophy. It is particularly necessary because symptoms of this condition can be similar to other muscle diseases, making it difficult to identify without genetic testing. Additionally, knowing the specific genetic mutation that causes the condition can help determine the severity of the disease in each individual patient.

Collagen VI-related dystrophy is a rare inherited condition caused by mutations in the COL6A1, COL6A2, or COL6A3 genes. These genes provide instructions for making proteins that are needed to support the integrity and stability of muscles and other connective tissue in the body. Mutations in these genes result in reduced production of collagen VI, leading to muscle weakness and other characteristic features of the condition.

Genetic testing for Collagen VI-related dystrophy is typically performed using a blood sample or a small piece of affected tissue. This testing can identify mutations in the COL6A1, COL6A2, or COL6A3 genes and confirm a diagnosis of Collagen VI-related dystrophy. Genetic testing can also help determine the mode of inheritance, as this condition can be inherited in an autosomal recessive or, more rarely, in an autosomal dominant manner.

The frequency of Collagen VI-related dystrophy is not well established, but it is considered to be a rare condition. It is more commonly diagnosed in infancy or early childhood, although in some cases, symptoms may not appear until later in life. Collagen VI-related dystrophy can be associated with different forms of myopathy, such as congenital muscular dystrophy or Bethlem myopathy.

In addition to genetic testing, there are several resources available for obtaining more information about Collagen VI-related dystrophy. The National Center for Biotechnology Information (NCBI) provides scientific articles and research on this condition through its PubMed database. The Online Mendelian Inheritance in Man (OMIM) catalog also provides comprehensive information about genetic diseases, including Collagen VI-related dystrophy. Furthermore, patient support and advocacy organizations, such as the Congenital Muscle Disease International Registry (CMDIR) and the CureCMD Research Center in Bonnemann, can provide further information and resources for patients and their families.

In conclusion, genetic testing is crucial for diagnosing Collagen VI-related dystrophy and understanding the specific genetic mutations that cause this condition. It is essential for providing accurate information about the inheritance pattern and guiding treatment and management decisions. Through genetic testing and available resources, individuals and families affected by Collagen VI-related dystrophy can learn more about their condition and access support and resources for better management and care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable resources for individuals and families affected by Collagen VI-related dystrophy. This center offers comprehensive information on the causes, scientific research, and available support for this rare genetic condition.

Collagen VI-related dystrophy, also known as Bethlem myopathy and Ullrich congenital muscular dystrophy, is a group of rare genetic disorders that affect the connective tissue and muscles in the body. Individuals with these conditions typically begin to show symptoms in infancy or childhood, including muscle weakness and joint deformities.

There are different forms of Collagen VI-related dystrophy, each associated with specific genetic changes. The GARD provides information on the different forms of the condition and the genes involved in its inheritance. This resource is helpful for individuals who may require genetic testing to confirm a diagnosis.

GARD also offers information on the frequency of Collagen VI-related dystrophy, as well as additional resources for patients and their families. This includes articles on treatment options, genetic counseling, and advocacy organizations that provide support for those affected by these rare diseases.

For individuals and families dealing with Collagen VI-related dystrophy, GARD is a valuable resource to learn more about the condition, connect with support networks, and access the latest scientific research. It can help individuals better understand the condition and make informed decisions about their healthcare.

To access the resources and information provided by GARD, individuals can visit their website or contact their support center. While there is no cure for Collagen VI-related dystrophy, there are measures that can be taken to manage symptoms and improve quality of life. GARD can provide guidance on these options and connect individuals with clinical trials or research studies that may offer new treatments or therapies.

References:

• Bonnemann, C. G. (2011). The Collagen VI-related myopathies: muscle meets its matrix. The Lancet Neurology, 10(9), 882-893.
• Collagen VI-Related Myopathies. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathies
• OMIM Entry – #120220 – COLLAGEN VI-RELATED MYOPATHY, ULLRICH CONGENITAL MUSCULAR DYSTROPHY VARIANT. (n.d.). OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/120220
• Collagen VI-Related Disorders. (2017). PubMed – National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/28584393

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide valuable information and support for individuals and families affected by collagen VI-related dystrophy. These resources typically offer a range of services and support, including:

• Educational materials and information
• Access to experts and medical professionals
• Peer support and networking opportunities
• Advocacy and awareness campaigns
• Research and fundraising initiatives

One such resource is the Collagen VI-related Dystrophy Patient Advocacy Center, where patients and their families can find information about the condition, learn about ongoing research and clinical trials, and connect with other individuals affected by the condition. The center also provides support and resources for families navigating the medical system and seeking appropriate care.

For additional information about Collagen VI-related dystrophy, patients and their families can consult the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the genetic causes, inheritance patterns, and clinical features of the condition. OMIM also includes references to scientific articles and research papers related to the condition.

In addition to these specific resources, patients and their families can also find support and information from more general patient advocacy organizations and rare disease foundations. These organizations often provide resources, support services, and advocacy efforts for individuals affected by rare diseases, including Collagen VI-related dystrophy.

By accessing these resources, patients and their families can gain valuable information about Collagen VI-related dystrophy, learn about available testing and treatment options, connect with others facing similar challenges, and access support to navigate the complexities of living with this rare condition.

Catalog of Genes and Diseases from OMIM

Collagen VI-related dystrophy is a rare genetic condition that affects the production of collagen, a protein involved in wound healing and the stability of connective tissue. It typically presents in childhood and can result in a variety of symptoms, including muscle weakness, joint contractures, and delayed motor development.

There are several forms of collagen VI-related dystrophy, each associated with mutations in different genes. The main genes involved are COL6A1, COL6A2, and COL6A3, which encode the three different chains of collagen VI. Mutations in these genes can result in a range of clinical manifestations, from mild muscle weakness to severe congenital-onset myopathies.

OMIM, the Online Mendelian Inheritance in Man database, provides a comprehensive catalog of genes and diseases, including information about their inheritance patterns, clinical features, and genetic testing availability. OMIM is a valuable resource for patients, researchers, and healthcare providers looking to learn more about collagen VI-related dystrophy and other genetic disorders.

OMIM provides a wealth of information about collagen VI-related dystrophy, including the frequency of the condition and additional resources for support and advocacy. Scientific articles from PubMed and references to other relevant publications are also available on OMIM, making it a valuable source for up-to-date and reliable information on this rare condition.

For patients and their families, OMIM can provide information about genetic testing options, clinical centers specializing in collagen VI-related dystrophy, and resources for support and advocacy. The catalog of genes and diseases on OMIM includes not only information about collagen VI-related dystrophy but also about other rare genetic myopathies and connective tissue disorders.

In conclusion, the OMIM catalog is a valuable resource for anyone seeking information about collagen VI-related dystrophy. It provides comprehensive information about the genes and clinical features associated with this condition, as well as valuable resources for patients and their families.

Scientific Articles on PubMed

Collagen VI-related dystrophy is a rare connective tissue disorder associated with childhood myopathies. The condition is caused by mutations in the genes that produce collagen VI, which provides structural stability to muscles and other tissues.

While collagen VI-related dystrophy is typically inherited in an autosomal recessive manner, some forms of the condition may have autosomal dominant inheritance. The frequency of the condition varies depending on the specific genetic mutation and population being studied.

Patient advocacy and research centers such as the Collagen VI Disorders International Patient Registry and the CMDIR provide resources for patients and families to learn more about the condition and connect with other individuals affected by collagen VI-related dystrophy.

Scientific articles on PubMed provide additional information about the various forms of collagen VI-related dystrophy, their clinical manifestations, genetic causes, and available treatment options. Some of the articles also discuss the role of collagen VI in wound healing and the stability of joint and muscle tissue.

References

This article on Collagen VI-related dystrophy is supported by the following references:

1. Bonnemann CG. The collagen VI-related myopathies: muscle meets the extracellular matrix. In: Bonnemann CG, Wang CH, eds. Collagen VI-related muscle disorders. Seattle: University of Washington; 2019.
2. Collagen VI-Related Dystrophies. National Organization for Rare Disorders (NORD). Retrieved from: https://rarediseases.org/rare-diseases/collagen-vi-related-dystrophies/.
3. Collagen VI-Related Dystrophy. Online Mendelian Inheritance in Man (OMIM). Retrieved from: https://www.omim.org/entry/220160.
4. Collagen VI-Related Dystrophy. National Human Genome Research Institute (NHGRI). Retrieved from: https://www.genome.gov/25521675/collagen-vi-related-dystrophy/.
5. PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/.

If you need more information about Collagen VI-related dystrophy, these resources have additional scientific articles, patient support, and genetic testing information:

• Cure CMD. Retrieved from: https://www.curecmd.org/.
• Muscular Dystrophy Association (MDA). Retrieved from: https://www.mda.org/.
• TREAT-NMD. Retrieved from: https://treat-nmd.org/.
• Collagen VI-Related Disorders Catalog. Collagen VI-CMD & Bethlem Myopathy United. Retrieved from: https://www.collagen6.org/.