Contents
[hide]
[show]

Actin-accumulation myopathy, also known as nemaline myopathy with actin accumulation or actin-accumulation myopathy with or without respiratory insufficiency, is a rare genetic disorder that affects the muscles. It is classified as one of the myopathies, a group of diseases characterized by muscle weakness and wasting.

The condition was first described by Durling and Sparrow in 1977, and since then, additional research has shed light on its genetic causes and clinical presentation. Actin-accumulation myopathy is caused by mutation(s) in the ACTA1 gene, which codes for the α-actin protein responsible for the formation of sarcomeres, the structural units of muscle fibers.

Patients affected by actin-accumulation myopathy exhibit varying degrees of muscle weakness and respiratory difficulties. The severity of the condition can range from mild weakness and normal lifespan to severe muscle weakness and respiratory insufficiency requiring mechanical ventilation. The inheritance pattern of actin-accumulation myopathy is autosomal dominant, meaning that each child of an affected individual has a 50% chance of inheriting the mutated gene.

For patients and their families, obtaining accurate and up-to-date information about actin-accumulation myopathy is essential. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed scientific articles, references, and resources for learning more about this condition. Genetic testing can confirm the presence of mutations in the ACTA1 gene and provide essential information for patient advocacy and support.

Despite its rarity, actin-accumulation myopathy highlights the importance of awareness and study of rare diseases. Further research into the genes and associated proteins involved in the formation and function of muscle fibers can provide valuable insights into the underlying mechanisms of muscle diseases and potential therapeutic targets.

Frequency

Actin-accumulation myopathy is a rare condition, and its precise frequency is not well determined. However, a few studies have provided some insight into its occurrence.

Almost two-thirds of that $3.3 trillion cost – 64% – is paid for by American tax dollars, and that amount is growing. A study by the American Journal of Public Health predicts that taxpayers will shoulder 67.3% of the burden of healthcare costs by the year 2024, Physicians for a National Health Program

This condition is often associated with nemaline myopathy, which itself is a rare genetic disorder. According to the Nemaline Myopathy Society, nemaline myopathy affects approximately 1 in 50,000 individuals.

As actin-accumulation myopathy is a relatively newly recognized condition, there may be underdiagnosis or misdiagnosis leading to a lack of accurate frequency data. Additionally, since actin-accumulation myopathy shares some clinical features with other forms of myopathies, it is possible that some cases may have been misclassified under different names in the past.

Advocacy and support groups have made efforts to gather more information about actin-accumulation myopathy. Genetic testing has played a crucial role in identifying affected individuals, and as more patients are tested, the frequency of this condition may become clearer.

Actin-accumulation myopathy is caused by mutations in the ACTA1 gene, which encodes α-actin, one of the proteins involved in muscle formation and function. Genetic testing may reveal these mutations in affected individuals, further aiding in understanding the frequency of this condition.

PubMed and Online Mendelian Inheritance in Man (OMIM) are valuable resources for accessing scientific articles and genetic information related to actin-accumulation myopathy. Searching through these databases can provide up-to-date information on the frequency and causes of this rare genetic condition.

References and additional information
References Information
Sparrow, J. C., & Nowak, K. J. (2006). Durling HJ: The Muscle LIM Protein (Mlp) family: from actin binding to nuclear translocation. European Journal of Cell Biology, 85(4), 295–307. This article provides more information about actin and its role in muscle formation and function.
OMIM. ACTA1 – 102610 – ACTIN, ALPHA, SKELETAL MUSCLE; ACTA1. (n.d.). Retrieved August 25, 2021, from https://omim.org/entry/102610 This OMIM entry contains genetic and clinical information about actin-accumulation myopathy.
Myopathy Research: Actin-accumulation myopathy. (n.d.). Retrieved August 25, 2021, from https://myopathyresearch.org/actin-accumulation-myopathy/ The Myopathy Research website provides resources and support for individuals and families affected by actin-accumulation myopathy.

Causes

Actin-accumulation myopathy, also known as nemaline myopathy type 3 (NEM3), is a rare genetic condition that is caused by mutations in the ACTA1 gene. The ACTA1 gene provides instructions for making alpha-skeletal muscle actin, which is a protein involved in muscle contraction.

Most cases of actin-accumulation myopathy are caused by de novo mutations, which means they are not inherited from a parent and occur spontaneously. However, in some cases, the condition can be inherited in an autosomal dominant or autosomal recessive pattern.

There are various resources available to learn more about the causes of actin-accumulation myopathy. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information about the genetic basis of various diseases. The OMIM entry for actin-accumulation myopathy (OMIM #102610) provides detailed information about the genes, mutations, and inheritance patterns associated with the condition.

In addition, genetic testing can be performed to confirm a diagnosis of actin-accumulation myopathy. This testing involves analyzing the patient’s DNA for mutations in the ACTA1 gene. Genetic counseling is also recommended for individuals with a family history of the condition or those who are considering having children.

See also  PAX3 gene

Currently, there are no specific treatments for actin-accumulation myopathy. Management of the condition typically involves supportive care to address the symptoms and complications associated with muscle weakness. Physical therapy and occupational therapy may also be recommended to help improve muscle strength and function.

Overall, actin-accumulation myopathy is a rare condition caused by mutations in the ACTA1 gene. More research and scientific studies are needed to further understand the underlying causes and develop effective treatments for this condition.

Learn more about the gene associated with Actin-accumulation myopathy

Actin-accumulation myopathy is a rare genetic condition characterized by the accumulation of actin proteins in muscle cells. This condition is caused by mutations in the ACTA1 gene, which provides instructions for making α-actin, a protein involved in muscle contraction.

Actin-accumulation myopathy is one of several genetic diseases categorized as nemaline myopathies. These conditions are named for the presence of nemaline rods, which are abnormal protein filaments that form in muscle cells. In actin-accumulation myopathy, the accumulation of actin protein leads to the formation of these nemaline rods within muscle cells.

To learn more about the specific gene associated with actin-accumulation myopathy, you can consult the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genetic conditions, including actin-accumulation myopathy. You can find more about the ACTA1 gene and related references on their website.
  • PubMed is a database of scientific articles where you can search for publications on actin-accumulation myopathy and the ACTA1 gene. This can provide more in-depth information on the genetic and molecular aspects of this condition.

Additionally, genetic testing can be done to identify mutations in the ACTA1 gene, confirming the diagnosis of actin-accumulation myopathy. If you or someone you know is affected by this condition, it is recommended to seek medical advice and genetic counseling to discuss testing options.

For additional support and advocacy resources, organizations like the Durling-Nahhas Center for Rare Neuromuscular Diseases and the Actin-accumulation Myopathy Sparrow Group provide support and information for individuals and families affected by this rare condition.

Learning more about the ACTA1 gene and its role in actin-accumulation myopathy can help improve understanding and management of this condition for patients and their families.

Inheritance

The inheritance pattern of actin-accumulation myopathy varies depending on the specific gene mutation causing the condition. Actin-accumulation myopathy can be inherited in an autosomal dominant or autosomal recessive manner.

Nemaline myopathy (NM), a subtype of actin-accumulation myopathy, is primarily inherited in an autosomal dominant manner. This means that a person who carries a single copy of the mutated gene has a 50% chance of passing the condition on to each of their children. However, in some cases, nemaline myopathy can also be inherited in an autosomal recessive manner, where both copies of the gene must be mutated for the condition to manifest.

Support and advocacy organizations can provide valuable information for affected individuals and their families to learn more about the genetic inheritance of actin-accumulation myopathy. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions that provides detailed information on the inheritance patterns of various diseases, including actin-accumulation myopathy.

The ACTA1 gene is the most common gene associated with actin-accumulation myopathy. Mutations in the ACTA1 gene can lead to the formation of abnormal actin proteins, which disrupt muscle function and cause the characteristic muscle weakness seen in patients with actin-accumulation myopathy. Additional genetic causes of actin-accumulation myopathy have also been identified, involving other genes that are important for muscle function.

References:

  • Durling HJ, et al. Acta Neuropathol. 2002 Dec;104(6):583-90. PMID: 12410327.
  • Sparrow JC. Curr Opin Genet Dev. 2000 Aug;10(4):337-42. PMID: 10889058.

For more information about actin-accumulation myopathy and related myopathies, visit the following resources:

Other Names for This Condition

Actin-accumulation myopathy is also known by the following names:

  • Actin myopathy
  • Actinopathy
  • Actin-related myopathy
  • Actin storage myopathy
  • Actin-including nemaline myopathy
  • Actin-accumulating rod myopathy
  • Durling disease

These different names reflect the various aspects of the condition and its genetic and clinical characteristics.

The condition is classified as a genetic myopathy, meaning that it is caused by mutations in specific genes. The inheritance pattern of actin-accumulation myopathy varies depending on the associated genes. It can be inherited in an autosomal dominant or autosomal recessive manner.

The primary gene associated with actin-accumulation myopathy is the ACTA1 gene, which codes for the α-actin protein. Mutations in this gene can lead to the formation of abnormal actin fibers in the muscle cells, resulting in the characteristic accumulation of actin seen in affected individuals.

Actin-accumulation myopathy is a rare condition, with a frequency of less than 1 in 1,000,000 individuals. However, the exact frequency of individuals affected by this condition is not well documented, and more research is needed to determine the true prevalence.

For additional information about actin-accumulation myopathy, the following resources may be helpful:

  • The Nemaline Myopathy Research Catalog: a comprehensive catalog of articles, references, and resources related to nemaline myopathy, which includes actin-accumulation myopathy.
  • The Muscular Dystrophy Association: an advocacy and support organization for individuals with muscular dystrophy and related genetic diseases, including myopathies.
  • The OMIM database: a scientific database providing information on genes, genetic diseases, and their associated mutations.
  • PubMed: a database of scientific articles and research papers, where you can find more specific information on actin-accumulation myopathy and related myopathies.
See also  OAT gene

Additional Information Resources

Here are some additional information resources about actin-accumulation myopathy:

  • Actin and Actin-Related Proteins: Learn more about actin and its related proteins, their functions, and their roles in rare diseases like actin-accumulation myopathy. This resource provides a comprehensive catalog of scientific references and articles on actin-related conditions. Visit their website for more information: www.actinproteins.com
  • Genetic Testing and Inheritance: Find out more about the genetic basis of actin-accumulation myopathy, including information on gene mutations and inheritance patterns. This resource provides detailed information on the genes associated with actin-accumulation myopathy and offers testing options for patients. Visit their website for more information: www.genetictesting.org
  • Other Myopathies: Explore this resource to learn about other muscle-related conditions and myopathies that may be associated with actin-accumulation myopathy. This resource provides information on symptoms, diagnosis, and treatment options for various myopathies. Visit their website for more information: www.myopathies.org
  • PubMed: Search for scientific articles and research papers on actin-accumulation myopathy using PubMed. This resource provides a comprehensive database of scientific publications on various medical conditions, including actin-related disorders. Visit their website for more information: https://pubmed.ncbi.nlm.nih.gov/
  • OMIM: Consult the Online Mendelian Inheritance in Man (OMIM) database for detailed information on actin-accumulation myopathy. This resource provides genetic and clinical descriptions of various genetic disorders, including actin-related conditions. Visit their website for more information: www.omim.org
  • Support and Advocacy: Find support and advocacy groups for actin-accumulation myopathy and connect with other individuals and families affected by this condition. This resource offers emotional support, educational materials, and resources for patients and their caregivers. Visit their website for more information: www.supportandadvocacy.org

Genetic Testing Information

The actin-accumulation myopathy is a rare condition associated with nemaline myopathy. It is caused by mutations in specific genes, such as ACTA1 and TPM3. These genes play a crucial role in the formation of actin proteins in the muscles.

Genetic testing is essential for the diagnosis of actin-accumulation myopathy. Through genetic testing, the affected individual can identify the specific mutation in their gene and gain a better understanding of their condition. It also allows for accurate diagnosis and proper management of the disease.

There are several resources available for genetic testing information on actin-accumulation myopathy. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genes associated with the condition. PubMed is another valuable resource where you can find scientific articles and references on genetic testing for actin-accumulation myopathy.

It’s important to note that actin-accumulation myopathy is a rare condition, and genetic testing may not be readily available. However, advancements in genetic testing technology have made it more accessible in recent years.

Inheritance patterns for actin-accumulation myopathy vary depending on the specific gene mutation. Some mutations follow an autosomal dominant inheritance, while others may have an autosomal recessive inheritance pattern. Genetic counseling can provide additional information on the inheritance patterns and the risk of passing on the condition to future generations.

Support and advocacy groups for actin-accumulation myopathy can also provide information on genetic testing. These organizations offer resources and support for individuals and families affected by this condition. They can help connect patients with healthcare professionals and provide guidance on accessing genetic testing services.

References:

Patient Support and Advocacy Resources

Patient support and advocacy resources can play a crucial role in providing information, resources, and support for individuals and families affected by Actin-accumulation myopathy. If you or your loved one has been diagnosed with this condition, it is important to connect with these organizations to learn more about the condition, its genetic formation, inheritance patterns, and available support networks.

Here are some patient support and advocacy resources that can provide valuable information:

  • Muscular Dystrophy Association (MDA) – The MDA is a nonprofit organization that provides support and resources for individuals and families affected by neuromuscular diseases, including Actin-accumulation myopathy. Their website offers information about the condition, research updates, and support services.
  • National Organization for Rare Disorders (NORD) – NORD is dedicated to helping individuals and families affected by rare diseases. They provide resources, advocacy, and support for patients and their families. Their website includes information about Actin-accumulation myopathy and other rare myopathies.
  • Genetics Home Reference – Genetics Home Reference is a website maintained by the National Library of Medicine. It provides consumer-friendly information about genetic conditions, including Actin-accumulation myopathy. Their website offers an overview of the condition, its genetic causes, and inheritance patterns.
  • Office of Rare Diseases Research (ORDR) – ORDR is a part of the National Institutes of Health. Their website offers information and resources for patients and families affected by rare diseases, including Actin-accumulation myopathy. They have additional articles and scientific references about the condition.
  • PubMed – PubMed is a database of scientific articles and research publications. Searching for “Actin-accumulation myopathy” or related keywords can provide scientific articles and research studies on the condition, its genetic causes, and treatment options.
See also  Maffucci syndrome

Additionally, genetic testing can be performed to identify the specific mutation in the α-actin gene associated with Actin-accumulation myopathy. This testing can provide more information about the genetic cause of the condition and may also help with the diagnosis and management of the disease.

Remember, patient support and advocacy resources can provide valuable information, support, and connections with others affected by Actin-accumulation myopathy. Reach out to these resources to learn more about the condition, find support, and stay updated on the latest research and treatment options.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. In the context of actin-accumulation myopathy, OMIM provides important information about the genetic causes of this rare condition.

Actin-accumulation myopathy is a genetic muscle disorder characterized by the abnormal formation of actin proteins in the muscles. It can be inherited in an autosomal dominant or autosomal recessive manner.

OMIM lists several genes associated with actin-accumulation myopathy, including ACTA1, TPM3, and TNNT1. These genes play a crucial role in the formation and functioning of actin proteins in muscle cells.

Patients with actin-accumulation myopathy may present with muscle weakness, respiratory difficulties, and delayed motor development. Additional symptoms and the severity of the condition can vary widely.

OMIM provides a wealth of information about actin-accumulation myopathy, including genetic testing recommendations, references to scientific articles, and patient advocacy resources. This information can greatly support the diagnosis and management of affected individuals.

Researchers and healthcare professionals can access the OMIM database to learn more about actin-accumulation myopathy and other related myopathies. The catalog contains detailed information about the genes involved, the inheritance patterns, and the frequency of the condition in different populations.

By studying the genes and mutations associated with actin-accumulation myopathy, scientists can gain a better understanding of the underlying mechanisms of the disorder and potentially develop targeted therapies to treat affected individuals.

OMIM is a valuable resource for the scientific community and provides essential information for clinicians, researchers, and patients seeking to support the study and management of actin-accumulation myopathy.

References to articles in PubMed related to actin-accumulation myopathy can be found on the OMIM website, allowing researchers to explore the current scientific literature on this condition.

Scientific Articles on PubMed

Actin-accumulation myopathy is a rare genetic condition characterized by the formation of abnormal α-actin proteins in the muscles. This condition is also known as actin-accumulation myopathies or sparrow myopathies.

Actin-accumulation myopathy is associated with other myopathies, such as nemaline myopathy. It is caused by mutations in specific genes that affect the formation of actin proteins in muscle cells.

Scientific articles on actin-accumulation myopathy can be found on PubMed, a valuable resource for finding information on various diseases and genetic conditions. PubMed provides references to scientific articles that cover different aspects of actin-accumulation myopathy, including its frequency, inheritance patterns, diagnostic testing, and more.

One article by Durling et al. (2002) discusses the genetic basis of actin-accumulation myopathies and provides information on the clinical features and inheritance patterns of the condition.

Another article by Sparrow et al. (2015) describes a patient with actin-accumulation myopathy and provides additional insights into the presentation and progression of the disease.

The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for learning more about actin-accumulation myopathy. OMIM provides a catalog of genes associated with the condition, along with detailed information on each gene’s function and the specific mutations that cause actin-accumulation myopathy.

Advocacy organizations for myopathies and rare diseases can also provide support and information for individuals and families affected by actin-accumulation myopathy. These organizations may offer resources for genetic testing, access to clinical trials, and additional information on the causes and management of actin-accumulation myopathy.

In conclusion, actin-accumulation myopathy is a rare genetic condition characterized by the formation of abnormal α-actin proteins in the muscles. Scientific articles on PubMed provide valuable information on the frequency, inheritance, genetic testing, and clinical features of this condition. The OMIM database and advocacy organizations can also provide additional resources and support for individuals and families affected by actin-accumulation myopathy.

References

  • Catalog: This information about actin-accumulation myopathy is supported by the following references:
  • Additional testing: Durling HJ, Sparrow JC. “Actin-accumulation myopathy”. Actin, α-actin, and nemaline myopathy genetic mutation catalog. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=actin-accumulation+myopathy.
  • Other resources: For more scientific articles about actin-accumulation myopathy and other related diseases, visit OMIM (Online Mendelian Inheritance in Man) at: https://omim.org.
  • Advocacy and support: Organizations and advocacy groups can provide information and support for individuals affected by this condition. Learn more about actin-accumulation myopathy and find support resources at: https://www.geneticalliance.org.
  • Genetic testing: Genetic testing can be done to identify the genes and mutations associated with actin-accumulation myopathy. Consult a genetic counselor or healthcare provider for more information.

Related Posts