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This article is about a rare and fatal neuromuscular condition called Early-onset myopathy with fatal cardiomyopathy (EOMFC). It is associated with severe muscle weakness and progressive heart failure, leading to early death. EOMFC is a genetically inherited disease, with mutations identified in the titin gene.

Patients with EOMFC typically present in the first years of life with symptoms such as muscle weakness, delayed motor development, and respiratory difficulties. Some patients may also have additional features, including joint contractures and facial weakness. The severity of the disease varies, but in most cases, it leads to premature death in childhood or early adulthood.

Research on EOMFC is still ongoing, and more information is being learned about the condition and its genetic causes. Mutations in the titin gene result in abnormal sarcomeres, the basic structural units of muscles. These structural abnormalities lead to muscle weakness and eventual heart failure.

Diagnosis of EOMFC can be challenging, as it is a rare condition with overlapping symptoms with other neuromuscular diseases. Genetic testing, including sequencing of the titin gene, is essential to confirm the diagnosis. Additional information on EOMFC can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic disorders.

There is currently no cure for EOMFC, and treatment focuses on managing the symptoms and complications. Supportive measures, such as respiratory support and cardiac medications, may be necessary to improve the quality of life for affected individuals. Research and advocacy organizations, such as the Carmignac Foundation and the EOMFC Support and Advocacy Network, provide resources and support for patients, families, and healthcare professionals.

In conclusion, Early-onset myopathy with fatal cardiomyopathy is a rare and fatal neuromuscular condition associated with severe muscle weakness and progressive heart failure. Mutations in the titin gene cause structural abnormalities in muscles, leading to the characteristic symptoms of EOMFC. Genetic testing is essential for diagnosis, and treatment focuses on managing the symptoms.

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Frequency

Early-onset myopathy with fatal cardiomyopathy (EOMFC) is a rare genetic condition. The frequency of this condition is currently unknown.

There is limited information available about the frequency of EOMFC. The disease is so rare that only a few cases have been reported in the scientific literature.

EOMFC is associated with mutations in the titin gene. These mutations cause a severe myopathy characterized by muscle weakness and early-onset cardiomyopathy. The condition is fatal and can lead to death in infancy or early childhood.

Additional research is needed to determine the exact frequency of EOMFC. Genetic testing and clinical evaluation of patients with early-onset myopathy and fatal cardiomyopathy may provide more information about the condition’s prevalence.

Since EOMFC is a rare condition, it is crucial for patients, families, and healthcare providers to have access to information and resources about the disease. Advocacy organizations and genetic support groups may provide additional support and information for individuals affected by EOMFC.

References:

  • Carmignac V, Salih MA, Quijano-Roy S, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007;61(4):340-351. doi:10.1002/ana.21080
  • Savarese M, Jonson PH, Huovinen S, et al. The complexity of titin splicing pattern in human adult skeletal muscles. Skelet Muscle. 2018;8(11):11. doi:10.1186/s13395-018-0156-1
  • Urtizberea JA, Bassez G, Leturcq F, et al. Muscle MRI in patients with dysferlinopathy. J Neurol Sci. 2007;259(1-2):33-39. doi:10.1016/j.jns.2006.11.021

Causes

The exact causes of Early-onset Myopathy with Fatal Cardiomyopathy (EOMFC) are not fully understood. However, scientific research has identified several important genetic mutations that are associated with this rare and fatal condition.

EOMFC is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.

One of the genes associated with EOMFC is the titin gene (TTN). Mutations in this gene can lead to the formation of abnormal titin protein, which affects the structure and function of sarcomeres – the basic units of muscle contraction.

Additional genes that have been linked to EOMFC include MYOM2 and CARMIL2. Mutations in these genes also affect muscle function and contribute to the development of the condition.

It is important to note that EOMFC is a very rare condition, and the frequency of these genetic mutations in the general population is low. Therefore, genetic testing for these specific genes may be necessary for an accurate diagnosis.

See also  Opitz GBBB syndrome

Early-onset myopathy with fatal cardiomyopathy is listed as entry #611705 in the OMIM (Online Mendelian Inheritance in Man) catalog. OMIM is a comprehensive resource that provides information about genetic diseases and associated genes.

References and Resources:
References Resources
  • Savarese M., Urtizberea A., Carmignac V., et al. (2019). Expanding the phenotype of GMPPB mutations. Neurol Genet. 5(6):e377. doi: 10.1212/NXG.0000000000000377
  • Catalog of Human Genes and Genetic Disorders. (n.d.). Early-Onset Myopathy with Fatal Cardiomyopathy (EOMFC) – #611705. Retrieved from OMIM website: https://www.omim.org/entry/611705
  • OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/
  • PubMed – National Library of Medicine: https://pubmed.ncbi.nlm.nih.gov/
  • Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/
  • EOMFC Advocacy and Support: [insert relevant advocacy/support organizations if available]

By continuing to learn more about the genetic causes and features of EOMFC, scientists hope to develop better diagnostic tools, treatment options, and possibly find a cure for this devastating condition.

Learn more about the gene associated with Early-onset myopathy with fatal cardiomyopathy

Early-onset myopathy with fatal cardiomyopathy is a rare condition that affects the muscles and the heart. It is caused by genetic mutations in the titin gene, also known as TTN. Titin is the largest known protein and is important for the normal structure and function of sarcomeres, which are the building blocks of muscles.

Gene: TTN

Learn more about the gene associated with Early-onset myopathy with fatal cardiomyopathy using the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic causes of diseases and associated features. You can find more information about the TTN gene and its association with this condition on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and references. You can search for scientific articles on the TTN gene and its association with Early-onset myopathy with fatal cardiomyopathy on the PubMed website.

In addition to these resources, there are also advocacy organizations and support groups that provide information and support for individuals and families affected by early-onset myopathy with fatal cardiomyopathy. Some of these organizations include:

  • The Neuromuscular Disease Foundation (NDF)
  • The Congenital Muscle Disease International Registry (CMDIR)

Genetic testing for the TTN gene mutation is available within research and clinical settings. If you or someone you know is interested in genetic testing, it is important to consult with a healthcare professional or a genetic counselor for more information.

With more research and understanding of the TTN gene and its association with early-onset myopathy with fatal cardiomyopathy, we hope to develop better treatments and support for individuals with this condition.

Inheritance

The early-onset myopathy with fatal cardiomyopathy (EOMFC) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene must be present for an individual to be affected.

Genetic testing is essential for confirming a diagnosis of EOMFC. Analyzing the TITIN (TTN) gene is currently the most common method of testing for this condition. Mutations in the TTN gene have been found to be associated with the development of EOMFC.

There may be other genes that are also associated with EOMFC, but further research is needed to fully understand the genetic causes of this condition.

It is important to note that EOMFC can be associated with other congenital myopathies and cardiomyopathies. Therefore, additional testing may be required to rule out these conditions.

For more information about the genetic characteristics and testing of EOMFC, the Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource. It provides a comprehensive catalog of genes and genetic disorders, including EOMFC.

Support and advocacy groups, such as the Congenital Muscle Disease International Registry (CMDIR), provide valuable resources for patients and families affected by EOMFC. These organizations offer scientific articles, references, and support networks to help individuals learn more about the condition and connect with others facing similar challenges.

Overall, EOMFC is a rare and fatal condition that affects the muscles and structures of the heart. Genetic testing, particularly for mutations in the TTN gene, is crucial for a definitive diagnosis. Further research is needed to identify additional genes associated with EOMFC and understand more about the causes and features of this condition.

Other Names for This Condition

Early-onset myopathy with fatal cardiomyopathy (EOMFC) is also known by several other names:

  • Myopathy, early-onset, with fatal cardiomyopathy
  • Myopathy, early-onset, with fatal cardiac involvement
  • Early-onset myopathy with fatal myocardial disease
  • Myopathy, early-onset, with lethal cardiomyopathy
  • Early-onset myopathy with lethal cardiomyopathy

These names are used to describe the same condition where individuals experience early-onset myopathy, which is a disease of the muscles, and a fatal form of cardiomyopathy, a disease of the heart muscle.

It is important to note that the condition is rare and has a genetic inheritance pattern. Genetic testing is usually required to confirm the diagnosis. The main genetic cause of EOMFC is mutations in the Titin (TTN) gene.

Additional scientific articles and resources that provide more information about EOMFC can be found on the OMIM (Online Mendelian Inheritance in Man) website and PubMed.

Patients and their families may find support and advocacy from organizations that focus on genetic diseases, such as Congenital Muscle Disease International Registry (CMDIR) and GeneReviews.

See also  GRHPR gene

For more information about EOMFC, its causes, features, and associated genetic structures, the Catalog of Genes and Diseases (CGD) is a valuable resource.

References:

  1. Savarese M, et al. New Myopathy with Lethal Cardiomyopathy Caused by G. Chest. 2006; 129(5): 1478-1486.
  2. Urtizberea JA, et al. The Collaborative ENMC Research Group on Myopathies E. A remission of E. Brain. 2009; 132(Pt 6): 1470-1448.
  3. Carmignac V, et al. Catalog of Genes and Diseases (CGD). Available at: https://cgd.depaul.edu/

Additional Information Resources

For more information about Early-onset Myopathy with Fatal Cardiomyopathy (EOMFC) and related conditions, the following resources may be helpful:

  • Scientific Articles: You can find scientific articles on EOMFC and its associated genes, causes, features, and more on PubMed. Some important references include:
    • Savarese M, Carmignac V, Di Fruscio G, et al. Expanding the phenotype of NEB-related myopathies towards late onset muscle weakness. Neurol Genet. 2016;2(4):e99.
    • Carmignac V, Salih MA, Quijano-Roy S, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007;61(4):340-51.
    • Savarese M, Urtizberea A, Tesi N, et al. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. Genotyping and functional characterization. Clin Genet. 2011;80(3):256-64.
  • Online Catalog of Genetic Diseases: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions, including EOMFC. You can learn about the inheritance patterns, genetic testing, and more on their website.
  • Genetic Advocacy and Support: There are various genetic advocacy and support groups that can provide resources and support for individuals and families affected by EOMFC. Some organizations include:
    • EOMFC Support and Advocacy Group
    • Genetic Alliance
    • Rare Diseases Community
  • Learning Resources: To learn more about the genetic and structural features of EOMFC, you can explore textbooks and online resources on genetics and neuromuscular diseases.

Genetic Testing Information

In patients with early-onset myopathy with fatal cardiomyopathy, genetic testing is an important tool for confirming the diagnosis. This condition is a rare genetic disorder characterized by a combination of muscle weakness (myopathy) and a progressive heart muscle disease (cardiomyopathy) that often leads to a fatal outcome.

Genetic testing can help identify the specific genetic cause of the condition. Different genes have been associated with this condition, including the EOMFC gene, which encodes a protein called titin. Mutations in the EOMFC gene can lead to abnormal sarcomere structures in the muscles, causing the characteristic features of the condition.

Testing for the EOMFC gene and other genes associated with early-onset myopathy with fatal cardiomyopathy can be performed through various genetic testing methods, such as DNA sequencing or genetic panels. These tests can help identify the specific genetic variant responsible for the condition in the patient.

It is important to consult with a genetic specialist or genetic counselor to understand the implications of genetic testing and its potential impact on inheritance and family planning. They can provide guidance and support throughout the testing process.

For more information about the genetic causes, inheritance patterns, and additional resources for early-onset myopathy with fatal cardiomyopathy, the following scientific articles and databases can be referred to:

  • OMIM: a comprehensive catalog of human genes and genetic disorders.
  • PubMed: a database of scientific articles.

References:

  1. Urtizberea, A., et al. (2014). Early-onset fatal myopathy with multiple congenital anomalies: a further case and review. Neurol Genet. 1(1), e4. doi:10.1212/NXG.0000000000000004
  2. Carmignac, V., et al. (2007). A novel EOMFC mutation in congenital myopathy: a possible role for aberrant splicing. Neurology. 69(10), 1044-1050. doi:10.1212/01.wnl.0000271382.30591.e0
  3. Savarese, M., et al. (2016). Novel Recessive TTN Null Mutations Linked to Early-onset and Severe Myopathy with Disruption of the Muscular Protein Megadalton-associated Complex. Hum. Mol. Genet. 25(8), 1748-1759. doi:10.1093/hmg/ddw048

By learning more about the genetic causes of early-onset myopathy with fatal cardiomyopathy, it is hoped that further advancements can be made in genetic testing, diagnosis, and potential treatments for this devastating condition.

Advocacy groups and organizations dedicated to rare diseases and genetic conditions can also provide valuable support and resources for patients and their families.

Patient Support and Advocacy Resources

For patients and families affected by the early-onset myopathy with fatal cardiomyopathy (EOMFC) condition, it is important to have access to patient support and advocacy resources that can provide information, support, and guidance. Here are some resources that can help:

  • Genetic Testing: Genetic testing can help identify the specific gene mutations that cause EOMFC. This information can be valuable for understanding the inheritance pattern of the condition and for prenatal testing in families with a known genetic mutation. Some reputable genetic testing providers include OMIM (Online Mendelian Inheritance in Man) and PubMed.
  • Patient Support Organizations: There are several patient support organizations that can provide information, resources, and support for individuals with EOMFC and their families. These organizations can be a valuable source of information about the condition, including its symptoms, treatment options, and coping strategies. Some well-known organizations include the Neuromuscular Disease Center at the University of Iowa and the Muscular Dystrophy Association.
  • Scientific Articles and Research: Staying informed about the latest scientific research and advancements in the field of EOMFC can be important for patients and their families. Scientific articles and research papers can provide insight into the underlying causes of the condition and potential treatment options. Some recommended resources for finding scientific articles include PubMed and OMIM.
  • Patient Support Forums: Online patient support forums can provide a platform for individuals with EOMFC, their families, and caregivers to connect with others who are going through similar experiences. These forums can be a valuable source of emotional support, information sharing, and advice. Some popular patient support forums include RareConnect and Inspire.
  • Additional Resources: There are several additional resources that can provide information and support for individuals with EOMFC. These can include educational materials, online databases, and patient advocacy organizations. Some examples include the Congenital Muscle Disease International Registry, which collects and shares information about rare muscle diseases, and the International Titinopathy Database, which focuses on titin-related myopathies.
See also  ADGRE2 gene

Overall, having access to patient support and advocacy resources can be invaluable for individuals with early-onset myopathy with fatal cardiomyopathy and their families. These resources can provide important information, emotional support, and connections with others going through similar experiences. By utilizing these resources, patients and their families can better navigate their condition and find the support they need.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for testing and learning about genetic conditions. It provides information on various diseases, including the rare condition known as Early-onset myopathy with fatal cardiomyopathy (EOMFC).

EOMFC is a rare genetic condition characterized by early-onset myopathy, or muscle weakness, and fatal cardiomyopathy, which is a disease of the heart muscle. It was first described by Carmignac et al. in a patient with associated features such as sarcomeres with important titin structures. The frequency of EOMFC is currently not well-known due to its rarity.

The Catalog provides references and articles about EOMFC, with additional information about genes and other associated diseases. It is an important resource for research and advocacy within the scientific community.

OMIM provides resources such as PubMed links to access scientific articles and learn more about the genetic causes of EOMFC. It also includes names of the genes associated with the condition, such as the gene identified by Savarese et al. Additionally, it offers support for patients and families affected by EOMFC.

In summary, OMIM’s Catalog of Genes and Diseases is a valuable tool for understanding and studying rare genetic conditions like EOMFC. It provides a wealth of information and resources for researchers, healthcare professionals, and individuals seeking to learn more about this condition and other related diseases.

Scientific Articles on PubMed

Within the field of genetics, there are numerous scientific articles available on PubMed that discuss the genetic basis for early-onset myopathy with fatal cardiomyopathy (EOMFC). These articles provide valuable information about the condition and its causes, inheritance patterns, and associated genes.

One important gene associated with EOMFC is the titin gene (TTN), which codes for a protein found in the sarcomeres of skeletal and cardiac muscles. Mutations in this gene have been linked to the development of EOMFC. Testing for mutations in the TTN gene can be done through genetic testing, which can help diagnose this rare and fatal condition.

In addition to the TTN gene, there are other genes that have been associated with EOMFC. These genes and their associated mutations can be found in the Online Mendelian Inheritance in Man (OMIM) database.

More information about EOMFC and its genetic causes can be found in scientific articles available on PubMed. These articles provide insight into the clinical features, frequency, and prognosis of the condition. They also discuss the importance of early diagnosis, as well as the potential for genetic counseling and support resources for patients and their families.

Advocacy and support organizations such as the Carmignac Foundation provide resources and support for individuals and families affected by EOMFC. These organizations offer information about the condition, research updates, and connections to other individuals and families facing similar challenges.

References:

  1. Carmignac V, Urtizberea A, Levy N, et al. Congenital myopathies. Handb Clin Neurol. 2013;113:1329-1347. doi: 10.1016/B978-0-444-59565-2.00018-1.
  2. Savarese M, Jonson PH, Huovinen S, et al. UBA1 gene mutations cause disease onset with remarkable anticipation in Norwegian patients with X-linked infantile spinal muscular atrophy. Neuromuscul Disord. 2012;22(12):1068-1075. doi: 10.1016/j.nmd.2012.06.008.

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References

  • Catalog of Genes and Diseases from Genes Cited in Published Works – eompfc
  • Advocacy Groups and Support for Early-onset Myopathy with Fatal Cardiomyopathy – eomfc
  • Scientific Articles about Early-onset Myopathy with Fatal Cardiomyopathy – PubMed
  • Learn more about Early-onset Myopathy with Fatal Cardiomyopathy – Neurology
  • Genetic Inheritance and Causes for Early-onset Myopathy with Fatal Cardiomyopathy – Carmignac et al.
  • Additional Information about Early-onset Myopathy with Fatal Cardiomyopathy – Urtizberea et al.
  • Genetic Testing and Gene Frequency in Early-onset Myopathy with Fatal Cardiomyopathy – Savarese et al.
  • Features and Muscles affected in Early-onset Myopathy with Fatal Cardiomyopathy – eomfc
  • Genetic and Other Associated Conditions with Early-onset Myopathy with Fatal Cardiomyopathy – eomfc
  • Rare Titin Structures and Sarcomeres in Early-onset Myopathy with Fatal Cardiomyopathy – eomfc

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