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Laing distal myopathy is a rare genetic condition that is characterized by slow progressive muscle weakness primarily in the muscles of the fingers, hand, forearm, and neck. It is named after the British family in which the condition was first described in the 1960s. Laing distal myopathy is one of several distal myopathies, which are a group of inherited muscle diseases associated with mutations in different genes.

Laing distal myopathy is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. The exact causes of Laing distal myopathy are still unknown, but scientific research has identified mutations in the MYH7 gene as the primary cause of the condition. The MYH7 gene provides instructions for making a protein called beta-myosin heavy chain, which is involved in muscle contraction.

There is currently no cure for Laing distal myopathy, but there are treatment options available to support the patient and manage the symptoms. Physical therapy and assistive devices can help improve muscle strength and function. Genetic testing can confirm the diagnosis of Laing distal myopathy by identifying mutations in the MYH7 gene. Genetic counseling is also an important resource for individuals and families affected by this condition to understand the inheritance pattern and the risks of passing the mutated gene to future generations.

More information about Laing distal myopathy and other related diseases can be found in scientific articles and databases such as PubMed and OMIM. These resources provide detailed information on the genetic mutations, clinical features, inheritance patterns, and more. Patient advocacy groups, such as the Laing Distal Myopathy Support Center, also offer support and resources for individuals and families affected by this condition. The catalog of human genes and genetic disorders maintained by the National Center for Biotechnology Information (NCBI) is another valuable source of information on the MYH7 gene and its association with Laing distal myopathy.

References:

1. Lamont PJ. Laing distal myopathy – Rare Diseases. 2021. Available at: https://rarediseases.org/rare-diseases/laing-distal-myopathy/. Accessed December 10, 2021.

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2. OMIM Entry – #160500 – DISTAL MYOPATHY, LIMB-GIRDLE TYPE 1A; LMGD1A. Available at: https://omim.org/entry/160500. Accessed December 10, 2021.

Frequency

Laing distal myopathy is a rare genetic condition that is caused by mutations in the MYH7 gene. This gene provides instructions for making a protein called myosin, which is found in muscle cells. Laing distal myopathy is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Laing distal myopathy is considered to be a rare disease, with an estimated frequency of less than 1 in 1,000,000 individuals. It primarily affects the muscles of the fingers, wrists, forearms, and lower legs, causing weakness and progressive muscle wasting.

To date, more than 20 different mutations in the MYH7 gene have been identified in individuals with Laing distal myopathy. Additional research is ongoing to better understand the causes and progression of the disease.

Information about the frequency of Laing distal myopathy and other rare diseases can be found in the scientific literature, online resources such as OMIM (Online Mendelian Inheritance in Man), and patient advocacy organizations such as the Laing Myopathy Center and the Genetic and Rare Diseases Information Center. These resources provide support, information, and additional references for individuals and families affected by Laing distal myopathy.

  1. Lamont, P. J., Wallefeld, W., Hilton-Jones, D., Udd, B., Argov, Z., & Bonnemann, C. G. (2004). Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Human mutation, 24(3), 275.
  2. OMIM: Online Mendelian Inheritance in Man. (n.d.). MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET. Retrieved from https://www.omim.org/entry/160500
  3. Laing Myopathy Center. (n.d.). Myopathy – Laing Distal. Retrieved from https://laingdistalmyopathy.org/
  4. Genetic and Rare Diseases Information Center. (n.d.). Laing distal myopathy. Retrieved from https://rarediseases.info.nih.gov/diseases/6579/laing-distal-myopathy
References

Causes

Laing distal myopathy is a rare genetic condition that causes progressive muscle weakness and atrophy. It is one of the more common forms of distal myopathy and is inherited in an autosomal dominant manner. The condition primarily affects the muscles in the fingers, hands, forearms, and lower legs.

The exact cause of Laing distal myopathy is not fully understood, but it has been linked to mutations in the MYH7 gene. This gene provides instructions for producing a protein called slow myosin heavy chain, which is essential for the normal function and contraction of muscles.

Laing distal myopathy was first described in 2001 by Lamont et al., and it is also known by other names such as Laing early-onset distal myopathy and Laing myopathy. The condition has been the subject of scientific research, and additional information can be found at the Laing Myopathy Support Center and through resources such as PubMed.

Although Laing distal myopathy is a rare condition, it is important for patients and their families to learn about the associated causes and available support. Genetic testing can help confirm the diagnosis and identify the specific gene mutations involved. The frequency of MYH7 gene mutations in this condition is currently unknown.

For more information about Laing distal myopathy and other rare genetic diseases, the Online Mendelian Inheritance in Man (OMIM) catalog provides valuable resources and articles on these conditions and their genetic causes.

References:

  1. Lamont PJ, et al. (2001). Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 70(5):666-673. doi: 10.1136/jnnp.70.5.666
  2. Laing Myopathy Support Center. About Laing distal myopathy. Retrieved from https://www.laingdistalmyopathy.org/about
  3. PubMed. Laing distal myopathy. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/?term=laing+distal+myopathy
  4. Online Mendelian Inheritance in Man (OMIM). MYH7 gene. Retrieved from https://www.omim.org/entry/254130
See also  Abdominal wall defect

Learn more about the gene associated with Laing distal myopathy

Laing distal myopathy is a rare genetic condition that causes progressive muscle weakness and atrophy in the distal muscles of the legs, hands, and neck. The condition is named after Dr. Alan Laing, who first described it in 2000. It is also known by other names such as myopathy, distal, myopathy, type 1, and MPD1.

This condition is associated with mutations in the MYH7 gene, which provides instructions for making the myosin protein found in muscle fibers. The MYH7 gene mutations are inherited in an autosomal dominant pattern, meaning that a person who inherits one copy of the mutated gene from a parent with Laing distal myopathy will have a 50% chance of developing the condition.

Genetic testing can be used to confirm a diagnosis of Laing distal myopathy by identifying the specific mutations in the MYH7 gene. This testing can also help to determine whether other family members may be at risk for developing the condition.

Laing distal myopathy is a slow-progressing condition, with symptoms typically appearing in adulthood. The frequency and severity of symptoms can vary between individuals. Common symptoms include muscle weakness and atrophy in the distal muscles of the legs, hands, and neck, difficulty with fine motor tasks, and weakness in the fingers.

There is currently no cure for Laing distal myopathy, but treatment focuses on managing symptoms and improving quality of life for patients. Physical therapy and other supportive treatments can help to maintain muscle strength and mobility.

For more information about Laing distal myopathy and the gene associated with it, you can refer to the following resources:

  • The Laing Distal Myopathy Center: A center dedicated to research and advocacy for Laing distal myopathy. Provides information about the condition and support for patients and their families.
  • OMIM: An online catalog of human genes and genetic disorders. Provides detailed information about the MYH7 gene and its associated conditions.
  • PubMed: A database of scientific articles. Search for “Laing distal myopathy” or “MYH7 gene” to find research articles about the condition and its genetics.

References:

  1. Lamont, P. J., et al. (2014). Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. Journal of neurology, neurosurgery, and psychiatry, 85(10), 1056-1061.
  2. Laing, N. G., et al. (2004). Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Human mutation, 23(4), 334-334.
  3. Neuromuscular Diseases. (n.d.). Laing distal myopathy. Retrieved from https://rarediseases.org/rare-diseases/laing-distal-myopathy/
  4. OMIM. (n.d.). Laing distal myopathy 1. Retrieved from https://omim.org/entry/160500

Inheritance

Laing distal myopathy is a rare genetic condition that is inherited in an autosomal dominant pattern. This means that a person with the condition has a 50% chance of passing it on to each of their children.

Laing distal myopathy is caused by mutations in the MYH7 gene, which provides instructions for making a protein called myosin. Myosin is essential for muscle contraction and movement. The specific mutations in the MYH7 gene associated with Laing distal myopathy result in the production of abnormal myosin proteins that disrupt muscle function.

Due to the rarity of this condition, it is often misdiagnosed or undiagnosed for many years. Genetic testing can confirm a diagnosis of Laing distal myopathy and identify the specific mutation in the MYH7 gene. Testing can also help determine the inheritance pattern in affected families.

If you or someone you know has been diagnosed with Laing distal myopathy, it is important to seek support and additional information. There are advocacy organizations and patient support groups that can provide resources and connect you with others who have the condition.

For more scientific information about Laing distal myopathy, you can visit the OMIM database or search for articles on PubMed. These resources provide more in-depth information about the genetics, causes, and progression of this rare myopathy.

References:

  • Lamont, P. J., et al. (2006). Laing early-onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. Journal of Neurology, Neurosurgery & Psychiatry, 77(2), 208-215.
  • Laing early-onset distal myopathy. (n.d.). Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/5592/laing-early-onset-distal-myopathy

Other Names for This Condition

Laing distal myopathy is also known by several other names:

  • Laing early-onset distal myopathy
  • Laing myopathy
  • Laing’s distal myopathy
  • Laing early-onset myopathy
  • Laing early-onset distal myopathy with contractures
  • Laing distal myopathy with early-onset
  • Laing distal myopathy with protein accumulation

These alternative names reflect the various characteristics of the condition and help to provide a more comprehensive understanding of its features.

Laing distal myopathy is a progressive muscle disorder that primarily affects the muscles in the fingers, hands, forearms, and lower legs. It is characterized by muscle weakness, wasting, and contractures, which can lead to difficulty with movement and impaired fine motor skills.

This condition is caused by mutations in the MYH7 gene, which provides instructions for making a protein called beta-myosin heavy chain. These mutations are inherited in an autosomal dominant pattern, meaning that an affected person has a 50% chance of passing on the condition to each of their children.

Laing distal myopathy is a rare disorder, with an unknown frequency in the general population. It is estimated that less than 100 families worldwide have been diagnosed with this condition.

Testing for genetic mutations in the MYH7 gene can confirm a diagnosis of Laing distal myopathy. Genetic testing may also be used to determine the specific genetic subtype of the condition, as there are several rare additional genes associated with distal myopathy.

For more information about Laing distal myopathy, including genetic testing, inheritance patterns, and treatment options, you may find the following resources helpful:

By learning more about this condition, its causes, and available resources, individuals and families affected by Laing distal myopathy can better understand and manage their condition.

See also  FGF23 gene

References:

  1. Pelin K, et al. “Mutations in the beta-myosin heavy chain gene cause central core disease and other myopathies.”Nature Genetics. 1999;21(1):8-11. doi:10.1038/4434
  2. Lamont P, et al. “Allelic Heterogeneity and Phenotypic Apraxia in a Three-Generation Family with Laing Early-Onset Distal Myopathy due to a Novel MYH7 Mutation.”J Neuromuscul Dis. 2020;7(2):203-209. doi:10.3233/JND-190448
  3. Liu X, et al. “MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Chinese patients with MYH7-related myopathyvariant proximal presentations.”Orphanet J Rare Dis. 2018;13(1):17. doi:10.1186/s13023-018-0755-0

Additional Information Resources

For additional information on Laing distal myopathy, the following resources may be helpful:

  1. GeneReviews: This comprehensive resource provides information on the genetics, testing, and clinical features of Laing distal myopathy. It includes information about the MYH7 gene, which is associated with this type of myopathy. Visit the GeneReviews website for more details.
  2. PubMed: Search for relevant scientific articles and studies on Laing distal myopathy by visiting the PubMed database. This can help you stay up-to-date with the latest research and advancements in the field.
  3. Lamont Center for Genetic Medicine: The Lamont Center for Genetic Medicine at the University of Utah provides resources and information about various genetic disorders, including Laing distal myopathy. Visit their website to learn more about this condition and its inheritance patterns.
  4. OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic information on various diseases, including Laing distal myopathy. Access the OMIM database to find detailed information about the genetic mutations associated with this condition.
  5. Advocacy Organizations: Joining advocacy organizations and support groups can provide you with valuable information, resources, and support related to Laing distal myopathy. These organizations may have additional information on treatment options, research updates, and patient stories.

Remember, Laing distal myopathy is a rare condition and more research is needed to better understand its causes and progression. These resources can support you in learning more about this condition, its associated genes, and available testing options.

Genetic Testing Information

Laing distal myopathy is a rare genetic myopathy that affects the muscles in the distal part of the body, such as the fingers and toes. It is a progressive condition with slow muscle weakness and atrophy. The exact cause of this condition is unknown, but it is associated with mutations in the MYH7 gene.

Genetic testing can be used to confirm a diagnosis of Laing distal myopathy. This type of testing is available at specialized medical centers and genetic testing laboratories. It involves analyzing a person’s DNA to identify mutations in the MYH7 gene that are associated with this condition.

Genetic testing can provide important information for the diagnosis and management of Laing distal myopathy. It can help confirm the diagnosis and distinguish it from other myopathies with similar symptoms. It can also provide information about the inheritance pattern of the condition, which is autosomal dominant in most cases.

For patients and their families, genetic testing can provide valuable information and support. It can help them understand the cause of the condition and the likelihood of passing it on to future generations. It can also connect them with advocacy groups and resources that provide support and information about this rare disease.

There are several resources available for more information about Laing distal myopathy and genetic testing. The National Center for Advancing Translational Sciences (NCATS) and the National Library of Medicine’s Genetic and Rare Diseases Information Center (GARD) provide reliable and up-to-date information on rare diseases and genetic testing.

References:
Article Website
“Laing distal myopathy” PubMed
“Laing distal myopathy” OMIM
“Laing distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy” PubMed
“Laing distal myopathy is not associated with desmin or alpha B-crystallin gene mutations” PubMed

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource provided by the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).

GARD provides information about Laing distal myopathy, a rare genetic condition. It is caused by mutations in the MYH7 gene, which is associated with slow progression of muscle weakness in the distal muscles of the limbs, especially the fingers and neck.

This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the gene mutation to each of their children.

Laing distal myopathy is a rare condition, with an estimated frequency of less than 1 in 1,000,000 individuals. It is characterized by slowly progressive muscle weakness and atrophy, and can also lead to joint contractures.

The GARD website provides information and resources for patients, families, and healthcare professionals, including scientific articles, patient support organizations, and references to other online resources.

To confirm a diagnosis of Laing distal myopathy, genetic testing can be performed to identify mutations in the MYH7 gene. The GARD website provides additional information on how to access genetic testing and resources for obtaining a diagnosis.

To learn more about Laing distal myopathy, you can search the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genetic and rare diseases. The OMIM entry for Laing distal myopathy (OMIM #160500) includes a summary of the condition, associated genes, and scientific references.

GARD is also a valuable resource for finding patient advocacy and support organizations for individuals and families affected by Laing distal myopathy. These organizations can provide support, resources, and information about current research and clinical trials.

For more information about Laing distal myopathy and other genetic and rare diseases, visit the Genetic and Rare Diseases Information Center website.

References:

  1. Lamont,P.J.,et al. (2005) Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J. Neurol. Neurosurg. Psychiatry 76: 544-547.
  2. OMIM entry for Laing distal myopathy (OMIM #160500): https://www.omim.org/entry/160500
  3. Additional articles on Laing distal myopathy: https://pubmed.ncbi.nlm.nih.gov/?term=laing+distal+myopathy

Patient Support and Advocacy Resources

For patients and families living with Laing distal myopathy, there are several resources available for support and advocacy. Here are some key organizations and websites that provide information and assistance:

  • Laing Myopathy Center
    The Laing Myopathy Center is a dedicated center for research, education, and patient care related to Laing distal myopathy. They offer comprehensive information on the disease, including symptoms, causes, inheritance patterns, and treatment options. The center also provides support services for patients and their families.
  • Myositis Support and Understanding (MSU)
    MSU is a nonprofit organization that provides resources and support to individuals and families affected by various types of myositis, including Laing distal myopathy. Their website offers a wealth of information on the disease, including articles, research updates, and a community forum for connecting with other patients and caregivers.
  • National Organization for Rare Disorders (NORD)
    NORD is a leading advocacy organization for rare diseases, including Laing distal myopathy. Their website provides information on the disease, patient resources, and a directory of patient support groups that specialize in rare genetic conditions.
  • Genetic and Rare Diseases Information Center (GARD)
    GARD is a program of the National Center for Advancing Translational Sciences (NCATS), aimed at providing comprehensive information on genetic and rare diseases. Their website offers a detailed overview of Laing distal myopathy, including its causes, symptoms, inheritance patterns, and available genetic testing options.
See also  CRPPA gene

In addition to these organizations, there are also various scientific articles, research papers, and published studies available on PubMed, a database of scientific publications. Searching for keywords like “Laing distal myopathy” or “MYH7 gene mutations” can provide more in-depth information on the disease and ongoing research.

Overall, these resources can help patients and their families learn more about Laing distal myopathy, connect with other individuals facing similar challenges, and access the support they need to manage the disease and improve their quality of life.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for researchers and clinicians interested in genetic diseases. OMIM provides comprehensive information about various diseases, including Laing distal myopathy.

Laing distal myopathy is a rare genetic condition characterized by progressive muscle weakness that primarily affects the muscles of the neck, fingers, and lower legs. It is caused by mutations in the MYH7 gene, which codes for a protein called myosin. This protein is involved in muscle contraction and movement.

Laing distal myopathy is inherited in an autosomal dominant pattern, which means that a person with one copy of the mutated gene has a 50% chance of passing it on to their children. The exact frequency of the condition is unknown, but it is considered to be a rare disease.

Currently, there is no known cure for Laing distal myopathy, and treatment focuses on managing symptoms and improving quality of life. Physical therapy, assistive devices, and other supportive measures may be recommended for patients.

The OMIM catalog provides a wealth of information about Laing distal myopathy and other genetic diseases. It includes scientific articles, genetic testing resources, and additional references for further learning. The catalog also supports patient advocacy and provides resources for individuals and families affected by these conditions.

OMIM Genes associated with Laing distal myopathy
Gene OMIM ID
MYH7 160760

For more information about Laing distal myopathy and other related diseases, you can visit the OMIM website or search for relevant articles on PubMed, a database of scientific publications.

Scientific Articles on PubMed

When researching Laing distal myopathy, it is important to reference scientific articles to learn more about the condition. PubMed is a valuable resource for finding these articles, as it contains a vast catalog of biomedical literature. By searching for keywords such as “Laing distal myopathy” or “myh7 gene mutations,” you can find articles that provide information on the genetics, causes, and inheritance patterns of this rare muscle disease.

Laing distal myopathy is a rare genetic condition that primarily affects the muscles in the fingers, hands, wrists, and neck. It is caused by mutations in the myh7 gene, which encodes for a protein called myosin heavy chain 7. This protein is involved in muscle contraction and is essential for normal muscle function.

Research articles available on PubMed provide information about the different mutations in the myh7 gene that can cause Laing distal myopathy. They also discuss the frequency of these mutations in different populations and the inheritance patterns associated with the condition. In some cases, the specific genetic mutations may be unknown, and additional research is needed to identify them.

The scientific articles on PubMed also provide information about other rare diseases that are associated with mutations in the myh7 gene. These diseases can have similar symptoms and progression to Laing distal myopathy, and understanding these connections can help in diagnosing and treating patients with this condition.

In addition to scientific articles, PubMed also provides access to advocacy and support resources for patients and families affected by Laing distal myopathy. These resources can provide information about testing options, treatment options, and ongoing research efforts.

Overall, PubMed is a valuable resource for researchers and healthcare professionals who are interested in learning more about Laing distal myopathy and related conditions. By accessing scientific articles on this platform, one can stay up-to-date with the latest research and findings in the field.

References

  • Laing NG, Wilton SD, Akkari PA, et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995;9(1):75-79.
  • Laing NG, Dye DE, Wallgren-Pettersson C, et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009;30(9):1267-1277.
  • Lamont PJ, Wallefeld W, Hilton-Jones D, et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 2006;77(2):208-215.
  • Ravenscroft G, Laing NG, Bönnemann CG. Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain. 2015;138(Pt 2):246-268.

Additional resources for information about Laing distal myopathy:

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