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X-linked myotubular myopathy is a rare genetic condition caused by mutations in the MTM1 gene, which codes for the protein myotubularin. It is one of several diseases associated with defects in the myotubularin family of genes.

Myotubular myopathy is characterized by severe muscle weakness and hypotonia, or low muscle tone. The condition primarily affects skeletal muscles, but can also impact respiratory muscles, leading to breathing difficulties.

X-linked myotubular myopathy is inherited in an X-linked recessive manner, meaning that the condition typically affects males while carriers, such as females, may show milder symptoms or be asymptomatic. The frequency of the condition is estimated to be about 1 in 50,000 to 1 in 100,000 individuals.

Diagnosis of X-linked myotubular myopathy is typically made through genetic testing, which can detect mutations in the MTM1 gene. Additional testing, such as muscle biopsy and electromyography, may also be performed to support the diagnosis.

There is currently no cure for X-linked myotubular myopathy, but research into the disease and potential treatments is ongoing. Various studies and clinical trials are being conducted to learn more about the condition and develop new therapies. Patients and their families can find support and information from organizations such as the Myotubular Trust and the Myotubular and Centronuclear Myopathy Information Center.

References:

Inflated pharmaceutical prices are another huge factor in the steep cost of healthcare. Americans spend an average of $858 per person on prescription drugs, according to Vox. That’s about twice as much as people in Australia spend on prescriptions. It’s three times the amount paid by people in The Netherlands.

– Myotubular Myopathy – Genetics Home Reference. https://ghr.nlm.nih.gov/condition/myotubular-myopathy

– X-linked Myotubular Myopathy. https://www.omim.org/entry/310400

– X-linked Myotubular Myopathy. https://www.ncbi.nlm.nih.gov/books/NBK1439/

– Tranchant, C. (2009). X-linked myotubular myopathy. Orphanet Journal of Rare Diseases, 4, 28.

– ClinicalTrials.gov. https://clinicaltrials.gov/

– Myotubular Trust. https://myotubulartrust.org/

– Myotubular and Centronuclear Myopathy Information Center. https://myotubularmyopathy.info/

– Myotubular and Centronuclear Myopathy. https://www.mda.org/disease/myotubular-and-centronuclear-myopathies

Frequency

X-linked myotubular myopathy (XLMTM) is a rare genetic disorder that primarily affects boys. It is estimated that the frequency of XLMTM is approximately 1 in 50,000 to 1 in 100,000 male births. However, this frequency may vary across different populations and regions.

The condition is caused by mutations in the MTM1 gene, which is located on the X chromosome. Inheritance of XLMTM follows an X-linked recessive pattern, meaning that the condition is passed on from carrier mothers to their sons. Carrier females do not typically experience symptoms of the disease.

Information about the frequency of XLMTM can be found in various scientific studies and resources. ClinicalTrials.gov and PubMed are valuable sources for accessing research articles and clinical trial information on XLMTM. Additionally, advocacy and support groups for XLMTM provide information and resources for patients and families.

Research studies have shed light on the causes and genetic factors associated with XLMTM. One of the key genes involved in XLMTM is the MTM1 gene, which encodes a protein called myotubularin. Mutations in this gene can lead to abnormal muscle fibers, causing muscle weakness and impaired breathing in individuals with XLMTM.

XLMTM is a rare disease, and obtaining a definitive diagnosis may require genetic testing. Testing for mutations in the MTM1 gene can help confirm the diagnosis of XLMTM. Genetic counselors and specialized centers can provide more information on genetic testing and the diagnostic process.

For families and individuals affected by XLMTM, support groups and advocacy organizations can provide additional resources and information. These groups often collaborate with researchers and clinicians to further the understanding of XLMTM and develop new treatment options.

References:

  1. Kobayashi, O. T., et al. (2013). X-linked myotubular myopathy: clinical and molecular analysis in ten patients from one family. Arquivos de Neuro-Psiquiatria, 71(11), 699-704.
  2. Tranchant, C., et al. (1997). Congenital myopathies. In GeneReviews®. University of Washington, Seattle.
  3. “Myotubular Myopathy.” Genetics Home Reference, U.S. National Library of Medicine, 9 Apr. 2019.
  4. North, K. N., et al. (1995). X-linked myotubular myopathy: clinical and diagnostic follow-up of carriers. Neurology, 45(3), 399-403.

Causes

The primary cause of X-linked myotubular myopathy (XLMTM) is mutations in the MTM1 gene. The MTM1 gene provides instructions for making a protein called myotubularin, which is essential for the normal development and function of muscle fibers.

XLMTM is inherited in an X-linked recessive pattern, which means the gene mutation responsible for the condition is located on the X chromosome. Males are typically more severely affected by XLMTM because they have only one copy of the X chromosome, while females have a second, unaffected X chromosome that can compensate for the mutation.

To learn more about the causes of XLMTM, individuals and healthcare professionals can refer to various resources and references, including:

  • OMIM (Online Mendelian Inheritance in Man): a comprehensive database of genetic disorders and their associated genes
  • PubMed: a database of scientific publications that can provide more information on research studies and genetic discoveries
  • Tranchant et al., 2019: a scientific article that provides clinical and genetic data on XLMTM patients
  • ClinicalTrials.gov: a website that lists ongoing clinical trials and studies related to XLMTM and other rare diseases

Additionally, advocacy and support organizations focused on XLMTM can provide valuable information and resources. These organizations often collaborate with researchers, healthcare professionals, and patients to promote awareness, support testing and diagnosis, and fund research studies to better understand the disease and develop potential treatments.

By gathering and analyzing genetic and clinical data, researchers aim to identify additional genes and factors that may be associated with XLMTM. This ongoing research can help provide more insight into the underlying causes of the condition and potentially lead to improved diagnosis, treatment, and management strategies.

Learn more about the gene associated with X-linked myotubular myopathy

X-linked myotubular myopathy is a rare genetic disease that primarily affects muscles, including the skeletal muscles involved in movement and the muscles used for breathing. It is caused by mutations in the MTM1 gene, which provides instructions for producing a protein called myotubularin. This protein is involved in the development and maintenance of muscle cells.

See also  Genetic Conditions H

The MTM1 gene is located on the X chromosome, and because the disease is X-linked, it primarily affects males. Females can also be carriers of the mutated gene and may show mild symptoms or be unaffected.

Research studies and clinical trials have provided valuable information about X-linked myotubular myopathy and its association with the MTM1 gene. Scientific articles and resources from PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov provide detailed information about the gene, the disease, and the associated symptoms.

Advocacy and support groups for X-linked myotubular myopathy also provide additional resources and information for patients and their families. These groups can help connect individuals with the latest research, clinical trials, and testing options. The X-linked Myotubular Myopathy International Registry is a valuable resource for individuals affected by the disease and their families.

Understanding the genetic basis of X-linked myotubular myopathy can help patients and their families make informed decisions about treatment options and support their overall management of the disease.

References:

Inheritance

X-linked myotubular myopathy (XLMTM) is an inherited condition that affects the muscles and breathing of affected individuals. It is caused by mutations in the MTM1 gene, located on the X chromosome.

The condition is called “myotubular myopathy” because muscle fibers in affected individuals resemble those of fetal muscle cells. This is due to the fact that the MTM1 gene is involved in the development and maintenance of muscle cells.

Since the gene associated with XLMTM is located on the X chromosome, the condition primarily affects males. Females can be carriers of the condition and may have mild symptoms or be unaffected.

XLMTM is a rare genetic disease, with a frequency of approximately 1 in 50,000 to 1 in 100,000 live births. It is important for patients and their families to seek genetic testing and counseling to learn more about the inheritance pattern and the associated risks.

Advocacy organizations and support groups, such as the Myotubular Trust, provide resources and information about XLMTM for patients and their families. They also fund research studies and clinical trials to learn more about the condition and develop potential treatments.

Additional information about XLMTM can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center. These resources provide scientific articles, research studies, and references about XLMTM and other related diseases.

ClinicalTrials.gov is also a valuable resource for information about ongoing clinical trials and studies related to XLMTM. These studies aim to improve the understanding and treatment of the condition.

In conclusion, XLMTM is an X-linked condition that affects the muscles and breathing of affected individuals. It is caused by mutations in the MTM1 gene and primarily affects males. Advocacy organizations, research studies, and genetic testing resources are available to support patients and their families in this rare genetic disease.

Other Names for This Condition

Myotubular myopathy is a rare genetic muscle disease that is also known by several other names:

  • X-linked myotubular myopathy
  • Centronuclear myopathy
  • Myotubular myopathy, X-linked
  • Myotubular myopathy 1
  • MTM1-related myopathy

These names are all associated with the same condition, which is caused by mutations in the MTM1 gene located on the X chromosome.

Additional information about this condition can be learned from the following references and resources:

  • Online Mendelian Inheritance in Man (OMIM): A catalog of human diseases and genetic information, OMIM provides detailed information on X-linked myotubular myopathy and other associated genes.
  • PubMed: An online database of scientific articles, PubMed contains a wide range of studies and research on myotubular myopathy and related topics.
  • Center for X-Linked Muscular Dystrophy Research: A dedicated center for research on X-linked myotubular myopathy and other related diseases, this resource provides information on ongoing studies, clinical trials, and advocacy support for patients and their families.
  • ClinicalTrials.gov: A website that provides information on ongoing clinical trials, ClinicalTrials.gov can offer additional resources and research opportunities for individuals interested in participating in studies related to myotubular myopathy.

In summary, myotubular myopathy, also known as X-linked myotubular myopathy, is a rare genetic disease that affects the muscles and causes difficulties with breathing. It is associated with mutations in the MTM1 gene on the X chromosome. There are several other names for this condition, and more information can be found through research articles, genetic catalogs, and resources such as ClinicalTrials.gov.

Additional Information Resources

For more information about X-linked myotubular myopathy, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the causes, inheritance patterns, and clinical features of various genetic diseases. You can find more information about X-linked myotubular myopathy by searching for its associated gene, myotubularin (MTM1), on the OMIM website.
  • GeneReviews: The GeneReviews website provides comprehensive summaries of genetic diseases, including X-linked myotubular myopathy. You can learn more about the clinical features, genetic testing, and management of this condition by visiting the GeneReviews page on X-linked myotubular myopathy.
  • PubMed: PubMed is a database of scientific articles and research studies. You can search for articles on X-linked myotubular myopathy to learn more about the latest research and advances in understanding this condition.
  • Myotubular Trust: The Myotubular Trust is a UK-based charity that provides support and information for individuals and families affected by myotubular myopathy. Their website offers resources on the condition, patient stories, and information about ongoing research and clinical trials.
  • Tranchant Research Center: The Tranchant Research Center focuses on research and education related to neuromuscular diseases, including X-linked myotubular myopathy. Their website provides information about the condition, as well as resources for healthcare professionals and individuals affected by the disease.
  • Advocacy and Support Organizations: There are several advocacy and support organizations dedicated to rare genetic diseases, including X-linked myotubular myopathy. These organizations can provide additional information, resources, and support for individuals and families affected by this condition. Examples include the Muscular Dystrophy Association and Cure CMD (Congenital Muscular Dystrophy).
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials investigating new treatments and therapies for various diseases, including X-linked myotubular myopathy. You can search for ongoing or upcoming clinical trials related to this condition to learn more about potential treatment options and opportunities to participate in research studies.
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Genetic Testing Information

Genetic testing is a valuable tool in diagnosing and understanding X-linked myotubular myopathy. This rare disease is caused by mutations in the MTM1 gene located on the X chromosome. The gene encodes the protein myotubularin, which is essential for muscle function. X-linked myotubular myopathy primarily affects males due to its X-linked inheritance pattern.

Genetic testing plays a crucial role in identifying mutations in the MTM1 gene. It allows healthcare providers to confirm the diagnosis and provide important information about the inheritance pattern to affected families. Genetic testing can also help determine the carrier status in females.

There are different types of genetic tests available for X-linked myotubular myopathy. These tests include DNA sequencing, deletion/duplication analysis, and other specialized techniques. DNA sequencing is the most common genetic test and allows for the detection of small changes in the gene sequence. Deletion/duplication analysis, on the other hand, can identify larger changes such as the absence or duplication of genetic material.

It is essential to consult with a genetic counselor or healthcare provider experienced in diagnosing and managing X-linked myotubular myopathy to discuss the benefits and limitations of genetic testing. They can provide guidance on the appropriate testing options and help interpret the results.

Patients and families living with X-linked myotubular myopathy can find additional support and information through various resources. Organizations such as the Myotubular Trust and Myotubular and Centronuclear Myopathy Family Connection provide advocacy, research, and support. They offer resources such as patient guides, clinical trials information, and scientific articles on X-linked myotubular myopathy and related muscle diseases.

References for further reading:

  1. Tranchant, C., & Romero, N. B. (2012). Clinical and histopathological aspects of X-linked myotubular myopathy. Muscle & Nerve, 45(1), 3-9. PubMed.
  2. X-linked Myotubular Myopathy. (n.d.). Retrieved from Gene Reviews on OMIM.
  3. Myotubular Myopathy. (n.d.). Retrieved from Myotubular Trust on https://myotubulartrust.org/.
  4. Myotubular and Centronuclear Myopathy Family Connection. (n.d.). Retrieved from Centronuclear.org on https://www.centronuclear.org.uk/.
  5. ClinicalTrials.gov. (n.d.). Retrieved from ClinicalTrials.gov on https://clinicaltrials.gov/.

Genetic and Rare Diseases Information Center

X-linked myotubular myopathy is a rare genetic condition that primarily affects the muscles. It is also known as X-linked centronuclear myopathy or myotubular myopathy. This condition is caused by mutations in the MTM1 gene, which provides instructions for making the myotubularin protein. Myotubularin is essential for the normal function and development of muscle fibers.

X-linked myotubular myopathy is inherited in an X-linked recessive pattern, which means the condition mainly affects males. However, in rare cases, females can also be affected. Females with a mutated MTM1 gene usually have milder symptoms compared to males. The frequency of this condition is estimated to be 1 in 50,000 to 1 in 100,000 males worldwide.

Individuals with X-linked myotubular myopathy typically experience muscle weakness and hypotonia (reduced muscle tone) from birth. This leads to difficulties with movement, including crawling, walking, and holding up the head. Breathing difficulties are also common and can be severe, requiring ventilator support. Additional symptoms may include feeding difficulties, mild intellectual disability, and delayed development of motor skills.

Diagnosis of X-linked myotubular myopathy involves a thorough clinical evaluation, assessment of muscle biopsy samples under a microscope, and genetic testing to identify mutations in the MTM1 gene. The Genetic and Rare Diseases Information Center (GARD) provides resources for patients, families, and healthcare professionals to learn more about this condition and its associated genes.

For further information and support, the GARD website offers a catalog of articles, advocacy organizations, and references to scientific research studies. Other online resources, such as PubMed and OMIM, can also provide additional information on X-linked myotubular myopathy and related topics.

ClinicalTrials.gov is a valuable resource for individuals interested in participating in clinical trials and research studies related to x-linked myotubular myopathy. These studies may provide opportunities to contribute to the development of new treatments and advancements in the understanding of the disease.

In summary, X-linked myotubular myopathy is a rare genetic condition that primarily affects the muscles. It is caused by mutations in the MTM1 gene and is inherited in an X-linked recessive pattern. The Genetic and Rare Diseases Information Center provides information, resources, and support to individuals and families affected by this condition.

Patient Support and Advocacy Resources

Patients and families affected by X-linked myotubular myopathy can find valuable support and advocacy resources to help navigate through their journey. These resources provide information, gene studies, and support groups dedicated to this rare genetic condition.

One of the key resources is the Myotubular Myopathy Patient Advocacy Resources Center, which offers a wide range of information and support for patients and their families. This center provides access to research articles, references, and clinical trials available for X-linked myotubular myopathy.

The OMIM (Online Mendelian Inheritance in Man) catalog is another valuable resource that provides clinical descriptions and genetic information about rare diseases. It contains detailed information about the genetic causes and inheritance patterns of X-linked myotubular myopathy.

Patients and families looking to participate in clinical trials can find relevant information on ClinicalTrials.gov. This website provides a database of ongoing clinical trials, including those related to X-linked myotubular myopathy. Patients can search for trials that are currently recruiting and apply to participate.

In addition to these resources, there are several patient support groups and advocacy organizations that provide guidance and support for individuals affected by X-linked myotubular myopathy. These groups aim to create a sense of community and provide a platform for patients and families to share their experiences and learn from each other.

It is important to note that X-linked myotubular myopathy is a rare genetic condition with a frequency of occurrence of about 1 in 50,000 male births. Genetic testing plays a crucial role in diagnosing this condition. Genetic counselors can provide more information about the testing process.

Overall, patient support and advocacy resources are crucial for individuals and families affected by X-linked myotubular myopathy. These resources provide valuable information, support, and a sense of community for patients and their families as they navigate through their journey with this rare genetic disease.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information on X-linked myotubular myopathy (XLMTM) as well as other muscle diseases. These studies aim to further understand the causes, genetic inheritance, clinical presentation, and management of XLMTM. Through these studies, researchers and clinicians gain insights into the disease and develop strategies for its diagnosis and treatment.

See also  Roberts syndrome

One of the main research focuses is on the gene associated with XLMTM, known as MTM1. Researchers investigate the function of this gene and how mutations in MTM1 lead to the development of myotubular myopathy. By understanding the genetic mechanism, scientists hope to develop targeted therapies for XLMTM patients.

ClinicalTrials.gov serves as a valuable resource for researchers, clinicians, and XLMTM patients and their families. The website catalogues ongoing clinical trials and provides information about their objectives, patient selection criteria, and endpoints. Researchers can find references to scientific articles and publications related to XLMTM on PubMed, which is also connected to ClinicalTrials.gov.

XLMTM is a rare condition, and research studies play a crucial role in improving the understanding and management of the disease. By participating in clinical trials, patients and families can contribute to the advancement of XLMTM research and benefit from the latest therapeutic interventions.

In addition to research studies, ClinicalTrials.gov provides information on patient advocacy resources, support groups, and other educational materials related to XLMTM. This additional information helps patients and families learn more about the condition, access support services, and connect with others who have similar experiences.

Overall, the research studies listed on ClinicalTrials.gov focus on investigating the genetic causes of XLMTM, understanding its clinical presentation, exploring potential therapeutic options, and improving patient outcomes. This scientific research and collaboration are crucial for advancing the field of XLMTM and bringing hope to patients and their families.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that catalogues genes and genetic diseases. It provides valuable information about various rare genetic disorders, including X-linked myotubular myopathy.

X-linked myotubular myopathy, also known as X-linked centronuclear myopathy, is a rare genetic disease that primarily affects the muscles. It is caused by mutations in the MTM1 gene, which is located on the X chromosome.

Patients with X-linked myotubular myopathy experience muscle weakness and difficulties with breathing. The condition is more common in males, as they have only one copy of the X chromosome. Females, who have two X chromosomes, are typically carriers of the disease and have a milder form of the condition.

OMIM provides comprehensive information about X-linked myotubular myopathy, including its associated genes, inheritance pattern, clinical symptoms, and genetic testing options. It also lists scientific articles, studies, and additional resources for further learning about the condition.

For advocacy and support, patients and their families can turn to organizations such as the Myotubular Trust and the Tranchant Myotubular Myopathy Center. These organizations offer resources, advocacy, and information about the latest research and clinical trials for X-linked myotubular myopathy.

Researchers can access OMIM to learn more about the genes and diseases associated with X-linked myotubular myopathy. The database provides a comprehensive catalog of information, including references to scientific articles, studies, and clinical trials listed on PubMed and clinicaltrials.gov.

Disease Information
Gene Inheritance Frequency
MTM1 X-linked Rare

OMIM serves as a valuable resource for learning about the genetic basis of diseases like X-linked myotubular myopathy. It provides researchers, healthcare professionals, and patients with the necessary information to understand the condition and develop appropriate treatment strategies.

Scientific Articles on PubMed

This section provides information about scientific articles on X-linked myotubular myopathy, a rare genetic disease. X-linked myotubular myopathy is a condition that primarily affects muscles, causing severe muscle weakness and impairing movement. It is caused by mutations in the MTM1 gene located on the X chromosome.

Scientific articles on PubMed, a database of biomedical literature, offer valuable resources for learning more about this condition. Many studies have been conducted to understand the genetic basis of X-linked myotubular myopathy and to explore potential treatment options.

Several articles focus on the MTM1 gene and its associated role in the development of the disease. These studies provide detailed information about the structure and function of the gene, as well as its inheritance patterns. Additionally, they discuss the clinical features and symptoms of X-linked myotubular myopathy and offer insights into potential treatment strategies.

The PubMed catalog includes articles that explore the broader field of myotubular myopathies and related diseases. These articles provide additional information about other genes and genetic factors associated with myotubular myopathies, as well as the clinical characteristics and inheritance patterns of these conditions.

In addition to scientific articles, there are also resources available on PubMed that provide information about ongoing research and clinical trials related to X-linked myotubular myopathy. These resources can be useful for individuals seeking information on the latest advancements in the field and potential opportunities for participation in clinical trials.

For more information about X-linked myotubular myopathy and related topics, the Online Mendelian Inheritance in Man (OMIM) database and ClinicalTrials.gov are also valuable resources. OMIM provides comprehensive information about genes, genetic conditions, and associated clinical features, while ClinicalTrials.gov offers information about ongoing clinical trials for X-linked myotubular myopathy and other diseases.

In conclusion, the scientific articles available on PubMed provide a wealth of information about X-linked myotubular myopathy and related diseases. These articles offer insights into the genetic basis of the condition, its clinical features, and potential treatment options. Additionally, resources like OMIM and ClinicalTrials.gov support further research and provide access to additional information and clinical trial opportunities for patients and their families.

References

  • GeneTests GeneReviews. X-linked Myotubular Myopathy. [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1437/
  • Advocacy organizations for myotubular myopathy include Myotubular Trust (https://myotubulartrust.org/) and the Joshua Frase Foundation (https://www.joshuafrase.org/).
  • Information about myotubular myopathy can be found at the Myotubular Myopathy Research Center (https://www.mtmcenter.org/).
  • The gene associated with X-linked myotubular myopathy is MTM1, which codes for the protein myotubularin. Information about this gene can be found on the OMIM database (https://www.omim.org/) and in PubMed articles.
  • Additional resources for information about myotubular myopathy can be found on the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/) and the Muscular Dystrophy Association (https://www.mda.org/).
  • Clinical trials related to X-linked myotubular myopathy can be found on ClinicalTrials.gov (https://www.clinicaltrials.gov/).
  • Tranchant C, et al. Myotubular (centronuclear) myopathy. Orphanet J Rare Dis. 2007; 2: 25.
  • Pelosi L, et al. MTM1-related myotubular myopathy (X-linked centronuclear myopathy). Orphanet J Rare Dis. 2012; 7: 150.
  • Further articles and studies on the causes, inheritance patterns, and clinical experience of myotubular myopathy can be found in the references listed in these publications.

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