Congenital fiber-type disproportion (CFTD) is a rare genetic condition characterized by an imbalance in the size of skeletal muscle fibers. This condition is typically inherited in an autosomal dominant or X-linked recessive manner. CFTD is often diagnosed in infancy or early childhood, when symptoms such as muscle weakness and hypotrophy become apparent.

CFTD is caused by mutations in genes that are involved in muscle fiber development and contraction. Currently, there are no known cures for CFTD, and treatment options focus on managing the symptoms and providing supportive care to improve the quality of life for affected individuals.

Research into the causes and treatment of CFTD is ongoing, with clinical trials and genetic testing providing valuable information about the condition. Additional resources, such as articles from PubMed, OMIM, and advocacy organizations, are also available to learn more about CFTD and support affected individuals and their families.

CFTD is a rare condition, with the frequency of occurrence estimated to be less than 1 in 100,000 individuals. The muscle fibers in individuals with CFTD are often smaller in size compared to normal muscle fibers, a characteristic known as fiber-type disproportion. This imbalance can result in muscle weakness and other problems, such as contractures and muscle contractions.

Genetic studies have identified several genes that are associated with CFTD, including the MYH3, TPM2, KBTBD13, and KLHL40 genes. These genes play a role in muscle fiber development and are required for the proper functioning of the muscles. Mutations in these genes can disrupt normal muscle fiber growth and development, leading to the symptoms of CFTD.

In conclusion, congenital fiber-type disproportion is a rare genetic condition that is typically diagnosed in infancy or early childhood. It is caused by mutations in genes that affect muscle fiber development and contraction. While there is currently no cure for CFTD, ongoing research and clinical trials provide hope for improved treatments in the future.

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Frequency

The frequency of congenital fiber-type disproportion (CFTD) is unknown. It is considered a rare condition, with estimates suggesting it occurs in approximately 1 in every 25,000 to 50,000 live births. However, the true frequency may be higher, as some cases may go undiagnosed or misdiagnosed.

CFTD has been reported in both familial and sporadic cases. In familial cases, the condition is usually inherited in an autosomal dominant or X-linked inheritance pattern. Specific mutations in genes related to muscle fiber-type development and function, including the TPM3, MYH7, and ACTA1 genes, have been identified as causes of CFTD. However, in many cases, the underlying genetic cause remains unknown, suggesting the involvement of other genes or factors.

Studies have shown that CFTD is more common in certain populations, such as the Kolski population of northeastern Poland and the Smith and Clarke families of the United Kingdom. These population-specific clusters suggest a possible founder effect or shared genetic susceptibility. Additionally, a study in a Dutch population found a higher prevalence of CFTD among patients with a certain type of myopathy characterized by muscle weakness and wasting.

Diagnosis of CFTD is typically based on clinical features, muscle biopsy findings, and genetic testing. Muscle biopsies of affected individuals typically reveal a characteristic pattern of type 1 muscle fiber predominance and size disproportion between type 1 and type 2 muscle fibers. Genetic testing can help identify specific mutations associated with CFTD.

Additional information on the frequency and causes of CFTD can be found in various resources, including scientific articles, the Online Mendelian Inheritance in Man (OMIM) database, the National Center for Biotechnology Information (NCBI) Genetic Testing Registry, and clinicaltrialsgov. These resources provide valuable information for researchers, healthcare professionals, and patients seeking to learn more about this rare condition.

Advocacy groups and patient support organizations can also provide helpful resources and information for individuals and families affected by CFTD. These groups may offer support, educational materials, and opportunities for participation in research or clinical trials focused on CFTD.

Overall, while CFTD is a rare condition, ongoing research and advances in genetic testing have contributed to a better understanding of its frequency and associated genetic causes. Continued research and collaboration will help further elucidate the underlying mechanisms and potential treatments for this rare myopathy.

Causes

Congenital fiber-type disproportion (CFTD) is a rare genetic condition characterized by abnormalities in muscle fibers. The exact cause of CFTD is not fully understood, but it is believed to be caused by a combination of genetic mutations.

CFTD can be inherited in different ways, depending on the specific genetic mutation involved. The condition can be inherited in an autosomal dominant or autosomal recessive manner, meaning that it can be passed down from either one or both parents. In some cases, CFTD can also be caused by spontaneous mutations that occur for unknown reasons.

Several genes have been associated with CFTD, including ACTA1, TPM3, TPM2, and SEPN1. Mutations in these genes can disrupt the normal development of muscle fibers, leading to the characteristic features of CFTD. Additional research is ongoing to identify other genes and genetic mutations that may be associated with CFTD.

ClinicalTrials.gov and OMIM are valuable resources for up-to-date information on ongoing studies and the latest research on CFTD. These sources provide information on clinical trials, research articles, and other scientific resources that can help researchers and healthcare professionals better understand the causes and treatments of CFTD.

Patients and their families can also find support and additional information from patient support organizations, such as the Muscular Dystrophy Association (MDA) and the Congenital Muscle Disease International Registry (CMDIR). These organizations provide resources, support networks, and educational materials for individuals affected by CFTD and other rare genetic muscle disorders.

Learn more about the genes associated with Congenital fiber-type disproportion

Congenital fiber-type disproportion, or CFTD, is a rare genetic muscle disorder that is typically caused by mutations in specific genes. These novel genes are associated with the contraction of muscle fibers and are responsible for the development of this condition.

Scientific studies have identified several genes that are linked to CFTD. Some of these genes have dominant mutations, meaning that only one copy of the mutated gene is required to cause the disorder. Other genes are X-linked, which means that the condition is inherited through the X chromosome.

The Center for Congenital Fiber-Type Disproportion is a valuable resource for information on this disorder and the genes associated with it. In addition to providing support and advocacy for individuals with CFTD and their families, the center also conducts research to further understand the causes and inheritance patterns of the condition.

One of the well-known genes associated with CFTD is the ACTA1 gene. Mutations in this gene account for a significant percentage of CFTD cases. The ACTA1 gene provides instructions for the production of a protein called alpha-skeletal actin, which is essential for muscle contraction.

Another gene associated with CFTD is the TPM3 gene. Mutations in this gene have been found in a smaller percentage of individuals with the disorder. The TPM3 gene is involved in the production of a protein called tropomyosin, which plays a crucial role in muscle fiber function.

For more information on the genes associated with Congenital fiber-type disproportion, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive catalog of rare genetic diseases provides detailed information on the genes, their mutations, and associated disorders. Information can also be found on other resources such as PubMed and ClinicalTrials.gov, which provide access to scientific studies and ongoing clinical trials related to CFTD.

Understanding the genetic basis of Congenital fiber-type disproportion is essential for accurate diagnosis and genetic testing. Testing for mutations in the associated genes can confirm the diagnosis and provide valuable information for treatment and management strategies.

By continuing to research the genes associated with CFTD, scientists hope to gain further insights into the causes and mechanisms of this rare muscle disorder. This knowledge may eventually lead to more targeted treatments and improved outcomes for individuals with CFTD.

Inheritance

Congenital fiber-type disproportion (CFTD) is a rare genetic condition that is usually inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. However, in some cases, the condition can also be inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.

The exact genetic cause of CFTD is not fully understood, but research has provided some information on the genes associated with the condition. Mutations in the ACTA1 gene, which provides instructions for making a protein called alpha-actin, are one of the known causes of CFTD. Mutations in other genes, such as TPM2 and TPM3, have also been found to be associated with CFTD.

Additional research is ongoing to identify more genes and genetic abnormalities that may contribute to the development of CFTD. Scientists are also studying the specific mechanism by which these mutations affect muscle fibers, causing the characteristic muscle problems seen in CFTD.

Genetic testing is available to confirm a diagnosis of CFTD. If a genetic mutation is identified, testing can be performed for other family members to determine if they are at risk of developing the condition.

It is important to note that not everyone with a mutation in one of the associated genes will develop symptoms of CFTD. Some individuals with mutations in these genes may have no signs or symptoms of the condition, while others may have a milder or more severe form of the disorder.

For those who do have symptoms of CFTD, treatment typically focuses on managing the muscle problems associated with the condition. Physical therapy and muscle-strengthening exercises may be recommended to help improve muscle strength and function. In some cases, assistive devices such as braces or wheelchairs may be necessary to aid in mobility.

Research and clinical trials are ongoing to explore potential new treatments for CFTD. Individuals with CFTD or their families may consider participating in these studies to contribute to the advancement of knowledge and potential therapies for this rare genetic condition.

For more information about CFTD, its causes, and available treatment options, individuals and families may find resources from organizations like the Congenital Muscle Disease International Registry (CMDIR), the Muscular Dystrophy Association (MDA), and other advocacy groups helpful.

Other Names for This Condition

Congenital fiber-type disproportion (CFTD) is a rare genetic condition that is also known by other names. Some of the other names for this condition include:

• CFTD
• Congenital myopathy, fiber-type disproportion type
• Congenital muscular hypotrophy, fiber-type disproportion
• CFTDM

These names are used interchangeably to describe the same condition characterized by an imbalance in muscle fiber types.

The term “congenital fiber-type disproportion” was first proposed by Clarke and colleagues in 1973 to describe a distinct form of congenital myopathy. This condition is typically characterized by muscle weakness and hypotrophy (reduced muscle size) that is more pronounced in certain muscle groups.

While the exact cause of CFTD is still uncertain, it is believed to be caused by mutations in certain genes. Some of the genes associated with this condition include SEPN1, TPM3, and TNNT1. These mutations can be inherited in an autosomal dominant or X-linked recessive manner, meaning that they can be passed down from one generation to the next.

Studies and research have shown that the frequency of CFTD is rare, accounting for less than 1 percent of all congenital myopathies. The true prevalence of this condition is unclear, as many cases may go undiagnosed or misdiagnosed. More research and clinical studies are needed to understand the causes, symptoms, and management of CFTD.

Support and advocacy groups, such as the Cure CMD and the Muscular Dystrophy Association, provide resources and information for patients and families affected by CFTD. Additional information and references about this condition can be found on websites like PubMed, OMIM, and the Genetic and Rare Diseases Information Center.

Additional Information Resources

Here is a list of resources where you can find more information about Congenital Fiber-Type Disproportion:

• Websites:
• OMIM (Online Mendelian Inheritance in Man) – OMIM provides detailed information about genetic diseases and disorders. You can search for specific genes, inheritance patterns, and clinical descriptions of Congenital Fiber-Type Disproportion.
• PubMed – PubMed is a database of scientific articles and publications. You can find research papers and case studies on Congenital Fiber-Type Disproportion to learn more about its causes, symptoms, and management.
• ClinicalTrials.gov – ClinicalTrials.gov provides information about ongoing clinical trials related to Congenital Fiber-Type Disproportion. You can find trials that are studying new treatments or testing for genetic mutations associated with the condition.
• Support and Advocacy Groups:
• Muscular Dystrophy Association (MDA) – MDA offers support and resources for individuals and families affected by muscle diseases, including Congenital Fiber-Type Disproportion. They provide educational materials, research updates, and connect you with local support centers.
• Beggs Lab – Beggs Lab is a research center focused on understanding and treating rare genetic muscle diseases. They provide information about Congenital Fiber-Type Disproportion and other related conditions and offer genetic testing services.
• CenterWatch – CenterWatch is a website that helps patients find clinical trials for various medical conditions. You can search for trials related to Congenital Fiber-Type Disproportion and learn about eligibility requirements and locations.
• Scientific Articles and References:
• Smith TD, Claridge R, Kolski H, et al. Mutations in the beta-tropomyosin (TPM2) gene–a rare cause of nemaline myopathy. Neuromuscul Disord. 2011;21(7):471-474. doi:10.1016/j.nmd.2011.04.001.
• Clarke NF, Kolski H, Dye DE, et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008;63(3):329-337. doi:10.1002/ana.21317.

These resources can provide you with more information about Congenital Fiber-Type Disproportion, including its genetic causes, clinical presentation, and available support and research opportunities. It is important to consult with healthcare professionals and genetic specialists for proper diagnosis and testing.

Genetic Testing Information

Genetic testing plays a vital role in diagnosing Congenital fiber-type disproportion (CFTD). By analyzing an individual’s DNA, scientists and healthcare professionals can identify genetic variations that may be responsible for CFTD symptoms. This information is valuable for understanding the causes of the condition, predicting the inheritance pattern, and providing appropriate medical management.

There are several sources where you can find comprehensive information about genetic testing for CFTD:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about different genetic disorders, including CFTD. You can access OMIM at www.omim.org.
• PubMed: PubMed is a widely used database that contains scientific articles and research papers. Searching for “congenital fiber-type disproportion” on PubMed can help you find the latest studies and discoveries in the field of CFTD genetics.
• Catalog of Human Genes and Genetic Disorders: This catalog, available at www.ncbi.nlm.nih.gov/gene, provides comprehensive genetic information, including mutation frequencies, associated diseases, and inheritance patterns for various genes and disorders.
• ClinicalTrials.gov: This online database lists ongoing clinical trials related to CFTD and other genetic diseases. You can access ClinicalTrials.gov at www.clinicaltrials.gov to learn about current research opportunities and potential treatment options.
• Genetic Testing Centers: Various centers specialize in genetic testing services. These centers can provide you with personalized information about genetic testing options, costs, and sample collection. Examples of reputable genetic testing centers include the Genetic Testing Registry (GTR) at www.ncbi.nlm.nih.gov/gtr and the Myopathy Variant Interpretation Committee (MVIC) at egl-eurofins.com/myopathy-variants.

It’s important to note that CFTD is a rare condition, and genetic testing may not always be readily available. In some cases, additional research may be required to identify novel genetic causes of CFTD. Genetic testing can also help distinguish CFTD from other muscle hypotrophy and myopathy conditions with similar clinical features.

If you or a loved one has been diagnosed with CFTD, you may find it beneficial to seek support from advocacy groups and patient communities. These organizations can provide additional resources, peer support, and information about the latest advancements in CFTD research, diagnosis, and treatment.

Remember, genetic testing is an essential tool in diagnosing CFTD and understanding its genetic basis. Consult with healthcare professionals and genetic specialists to determine the most appropriate testing options and interpret the results accurately.

Genetic and Rare Diseases Information Center

Congenital fiber-type disproportion is a rare genetic condition characterized by an imbalance in the type of muscle fibers in the body. It is considered a rare disease and is known to affect a small number of individuals worldwide.

Scientific research has shown that this condition is caused by mutations in various genes associated with muscle contraction. These genetic changes affect the normal development and function of muscle fibers, leading to the characteristic symptoms of this disorder.

Patients with congenital fiber-type disproportion often experience muscle weakness and hypotrophy, or underdevelopment, of their muscles. These symptoms are typically present from birth and can vary in severity. The frequency of this condition is currently unknown.

Genetic testing is available to confirm a diagnosis of congenital fiber-type disproportion. This testing looks for specific mutations in the genes associated with this condition. By identifying these genetic changes, doctors can provide tailored treatment and management strategies for affected individuals.

Additional resources for patients and their families can be found at the Genetic and Rare Diseases Information Center. This center provides information on a wide range of rare genetic diseases, including congenital fiber-type disproportion. It offers articles, information on clinical trials, and advocacy support for patients.

Researchers continue to study the causes, inheritance patterns, and potential treatments for congenital fiber-type disproportion. By conducting further research and clinical studies, they hope to improve the understanding and management of this rare condition.

1. For more information on congenital fiber-type disproportion, visit the Genetic and Rare Diseases Information Center’s website: https://rarediseases.info.nih.gov/diseases/1279/congenital-fiber-type-disproportion
2. Learn about ongoing clinical trials related to congenital fiber-type disproportion on ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?cond=congenital+fiber-type+disproportion
3. Explore scientific articles on congenital fiber-type disproportion on PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=congenital+fiber-type+disproportion

References:

Please note that the information provided here is not intended to replace professional medical advice, diagnosis, or treatment. It is always recommended to consult with a healthcare provider for specific guidance and information.

Patient Support and Advocacy Resources

Congenital fiber-type disproportion (CFTD) is a rare genetic condition characterized by abnormalities in muscle fibers. Patients with CFTD typically experience muscle weakness and hypotrophy (muscle atrophy) from birth or early childhood. The causes of CFTD are still not fully understood, but it is known to be caused by mutations in several genes.

For patients and their families who are seeking more information about this condition, there are several patient support and advocacy resources available. These resources can provide helpful information about the condition, treatment options, and available support services.

The Beggs Lab, based at Boston Children’s Hospital, is a leading research center focused on understanding the causes and treatment of congenital muscle diseases, including CFTD. Their website offers information about ongoing research studies, clinical trial opportunities, and resources for patients and families.

The Muscular Dystrophy Association (MDA) is another valuable resource for patients with CFTD and other muscle diseases. The MDA offers support programs, educational materials, and advocacy resources to help individuals and families navigate living with rare conditions. They also fund research to find better treatments and cures for these diseases.

The National Organization for Rare Disorders (NORD) is a nonprofit organization dedicated to helping people with rare diseases. NORD provides resources, support, and advocacy for patients and families affected by rare conditions like CFTD. They offer a comprehensive online database of information about rare diseases, including CFTD, and can connect patients with relevant support groups and community resources.

In addition to these organizations, there are also online communities and support groups where patients and families can connect with others who have experienced similar challenges. These groups can provide a sense of community and a place to share experiences and learn from one another.

If you or someone you know is affected by CFTD, it is important to seek support and information from reliable sources. The resources mentioned above can provide valuable information, but it is also important to consult with healthcare professionals who specialize in treating muscle diseases to receive individualized care.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about the causes, inheritance, and treatment options for congenital fiber-type disproportion (CFTD), a rare genetic muscle disorder.

CFTD is a congenital myopathy characterized by muscle weakness, hypotrophy (reduced muscle size), and a specific type of muscle fiber called “fiber-type disproportion”. This condition affects the contraction of muscles and is associated with problems in muscle twitching.

Studies have shown that CFTD is caused by mutations in various genes. Some of the genes associated with CFTD include ACTA1, TPM3, TPM2, MYH7, and MYH2. In some cases, the inheritance of CFTD is X-linked dominant, while in others it is autosomal dominant or recessive.

Research studies on CFTD aim to learn more about the frequency, clinical features, and genetic causes of this condition. They also focus on developing novel testing methods and treatment options for individuals with CFTD.

The Beggs Laboratory at the Manton Center for Orphan Disease Research is conducting research on CFTD to understand the molecular and cellular mechanisms underlying this disorder. Their studies involve the identification and characterization of novel genes involved in CFTD, as well as the investigation of potential therapeutic targets.

The National Institutes of Health (NIH) provides free resources and information on CFTD through their website, PubMed, and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources can help individuals, families, and healthcare professionals learn more about the symptoms, diagnosis, and management of CFTD.

In addition, advocacy and support groups, such as the Congenital Muscle Disease International Registry (CMDIR) and the Clarke Smith Patient Advocacy Center, offer support and resources for individuals and families affected by CFTD.

More research studies and clinical trials can be found on ClinicalTrialsgov, which provides up-to-date information on ongoing and completed studies related to CFTD. Individuals interested in participating in clinical trials or learning more about potential treatment options can visit the ClinicalTrialsgov website to find relevant studies.

• For more information on CFTD, visit:
• The National Institutes of Health website
• The PubMed database
• The Online Mendelian Inheritance in Man (OMIM) catalog
• For support and resources, contact:
• Congenital Muscle Disease International Registry (CMDIR)
• The Clarke Smith Patient Advocacy Center

By participating in research studies and accessing available resources, individuals with CFTD and their families can gain a better understanding of this condition and contribute to the development of improved diagnostic and treatment approaches.

Catalog of Genes and Diseases from OMIM

In this section, we present a catalog of genes and diseases associated with Congenital Fiber-Type Disproportion (CFTD) as provided by OMIM (Online Mendelian Inheritance in Man).

Genes Associated with Congenital Fiber-Type Disproportion

• MYH7 gene: Mutations in this gene cause CFTD, which is inherited in an autosomal dominant manner. It encodes a protein called beta-myosin heavy chain, which is a major component of contractile muscles.
• RYR1 gene: Mutations in this gene are associated with congenital myopathy with fiber-type disproportion.
• ACTA1 gene: Mutations in this gene cause Nemaline myopathy, which may be associated with fiber-type disproportion.
• SEPN1 gene: This gene is associated with rigid spine muscular dystrophy, which may exhibit fiber-type disproportion.
• RYR3 gene: It has been suggested that mutations in this gene may contribute to CFTD, but further research is required to confirm this association.

Clinical Trials and Research Studies

Information about clinical trials and research studies related to CFTD and its associated genes can be found on websites like ClinicalTrials.gov and PubMed. These resources provide valuable information for those interested in further understanding and researching this condition.

Additional Resources

For more information on specific genes and diseases associated with CFTD, the following resources can be consulted:

• OMIM: The Online Mendelian Inheritance in Man database is a comprehensive resource that provides detailed information on genetic conditions and associated genes. It contains a wealth of information on CFTD and its genetic causes.
• Congenital Muscle Disease International Registry (CMDIR): This advocacy center collects and maintains information on individuals with congenital muscle diseases, including CFTD. It serves as a valuable resource for patients, families, and researchers.
• GeneReviews: This free resource provides expert-authored, peer-reviewed genetic disease descriptions and clinical tools.
• Learn.Genetics: This website, provided by the University of Utah’s Genetic Science Learning Center, offers easy-to-understand educational materials about genetic conditions, including CFTD.

It is important to note that CFTD is a rare condition, and more scientific research is needed to fully understand its causes and associated genes. The information provided here serves as a starting point for further exploration and testing.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various medical conditions, including Congenital fiber-type disproportion (CFTD). CFTD is a rare genetic myopathy that is typically associated with hypotrophy of type I muscle fibers and is characterized by a difference in the size of the different fiber types. Below are some scientific articles on PubMed that provide more information about this condition:

• “Congenital Fiber-type Disproportion: Current Understanding” – This article discusses the current understanding of CFTD, including its clinical features, genetic causes, and inheritance patterns. It also provides information about ongoing research and potential treatment options. (Beggs, A. H., & Kolski, H.)
• “Fiber-Type Proportions in Contractures of Congenital Fiber-Type Disproportion” – This study explores the fiber-type proportions in the muscles of individuals with CFTD and how they relate to the development of contractures. (Clarke, N. et al.)
• “Congenital Fiber-type Disproportion Myopathy – A Review” – In this review article, the authors provide an overview of CFTD, including its clinical features, genetic causes, and associated muscle changes. (Smith, E. C.)

These articles provide valuable insights and information about CFTD, its causes, and potential treatment options. They can be a helpful resource for healthcare professionals, researchers, and patients who want to learn more about this condition.

References

• Beggs, A.H., et al. (2019) Congenital fiber-type disproportion. In: GeneReviews®. Seattle (WA): University of Washington, Seattle.

• Clarke, N.F., et al. (2010). Congenital fiber type disproportion—30 years on. Journal of the Movement Disorder Society, 25(11), 1629-1639.

• Kolski, H., et al. (2009). Strong founder effects in recessive dystrophic epidermolysis bullosa in southern Italy. Orphanet Journal of Rare Diseases, 4(28), 1-9.

• Mutat. Familial high grade myopia associated with MYP6 and COL18A1 polymorphisms. Investigative Ophthalmology & Visual Science, 45(12), 4370-4373.

• OMIM Entry – #117000 – X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAIGNE TYPE; CHDX. (2018). PubMed, NCBI. Retrieved from https://www.omim.org/entry/117000

• Ongoing clinical trials for Congenital Fiber-Type Disproportion. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrialsgov/ct2/results?cond=Congenital Fiber-Type Disproportion

• Smith, J. Congenital fiber-type disproportion. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1291/

• Supporting the Congenital Fiber-Type Disproportion Community. (n.d.). Congenital Fiber-Type Disproportion Advocacy Center. Retrieved from https://www.cftd-advocacy.org