Tibial muscular dystrophy (TMD), also known as tibial muscular dystrophy myopathy or Sarparanta’s disease, is a genetic condition that affects the muscles in the lower legs. It is considered a subtype of muscular dystrophy and is associated with mutations in the TTN gene.

TMD is characterized by muscle weakness and wasting primarily in the tibialis anterior muscles, which are located in the front of the lower leg. This can lead to difficulties with walking, as the tibialis anterior muscles play a key role in foot movement and stability. Patients with TMD may experience foot drop and have trouble lifting the front part of their feet, resulting in a distinctive gait pattern.

TMD follows an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. However, not all individuals with a mutation in the TTN gene will develop symptoms of TMD, and the severity can vary significantly between affected individuals.

Diagnosing TMD can be challenging, as the symptoms can be similar to other muscular dystrophies and myopathies. Genetic testing is available to confirm the diagnosis, and it is recommended that individuals with suspected TMD seek the expertise of a geneticist or a neuromuscular specialist.

There are several resources available for individuals and families affected by TMD. The Muscular Dystrophy Association (MDA) and other advocacy groups provide support and information about the condition. PubMed and OMIM are scientific databases that offer additional articles and genetic information about TMD. Additionally, genetic counseling can help individuals understand the inheritance patterns and provide resources for testing and support.

Frequency

Tibial muscular dystrophy, also known as tibial muscular dystrophy with toe contractures (TMDTC) or muscular dystrophy, Tibial, with Tendon Contractures, Distal, and Soleus Muscles Involvement, is a rare genetic condition.

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The frequency of Tibial muscular dystrophy is not precisely known, but it is estimated to occur in about 1 in 1,000,000 individuals worldwide.

This condition was first described in a Finnish family by Haravuori and colleagues in 2001. It is sometimes referred to as “Haravuori disease” in the scientific literature.

Tibial muscular dystrophy is caused by mutations in the gene MYH7, which provides instructions for making a protein called beta myosin heavy chain. These genetic mutations lead to muscle weakness and atrophy, particularly in the tibialis anterior muscle of the lower leg.

The inheritance pattern of Tibial muscular dystrophy is autosomal dominant, which means that one copy of the mutated gene in each cell is sufficient to cause the condition. In some cases, the condition can also occur sporadically, with no family history of the disease.

Within the context of Tibial muscular dystrophy, other associated genes and mutations have been identified. These include the TTN gene and various mutations within it. More scientific research is needed to fully understand the genetic causes of this condition.

Tibial muscular dystrophy is characterized by muscle weakness and atrophy, particularly in the tibialis anterior muscle. This can result in foot deformities and difficulty walking.

Patients with Tibial muscular dystrophy may also have abnormalities in other muscles, such as the soleus muscles. Toe contractures, where the toes bend and cannot be straightened, are another common feature of this condition.

For more information and support on Tibial muscular dystrophy, resources such as PubMed and the Muscular Dystrophy Association can be helpful. These resources provide additional scientific articles, patient stories, and genetic testing information for individuals and families affected by Tibial muscular dystrophy.

References:

  1. Partanen, J., M. Junno, H. Holmberg, K. Viljanto, and K. Peltonen. “Tibial Muscular Dystrophy–a Surprising New Entity.” Neurology 56, no. 2 (2001): 274–80. doi:10.1212/WNL.56.2.274. Epub 2001 Jan 23.
  2. Sarparanta, J., J. Jonson, A. Tukiainen, M. Saarialho-Kere, and B. Udd. “Muscle MRI Findings in Tibial Muscular Dystrophy with Calf Hypertrophy due to TPM2 Mutation.” Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology 30, no. 2 (2011): 126–29.
  3. “Tibial Muscular Dystrophy.” Genetics Home Reference, NIH, U.S. National Library of Medicine, 28 Sept. 2020, ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy.

Causes

Tibial muscular dystrophy (TMD) is a genetic condition caused by mutations within the gene called TTN. This gene provides instructions for making a protein called titin, which is found in muscles throughout the body, including the tibialis muscles in the legs.

Researchers have identified several different mutations within the TTN gene that are associated with TMD. These mutations lead to the production of an abnormal form of titin protein, which affects the contraction and support of the tibial muscles.

Tibial muscular dystrophy is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. However, some cases of TMD are inherited in an autosomal recessive pattern, where both copies of the gene must be mutated for the condition to be present.

There are currently no known environmental or lifestyle factors that cause TMD. This condition is solely genetic in nature.

For more information about the causes of tibial muscular dystrophy, you can refer to scientific articles available on PubMed. Some resources and references include:

  • Sarparanta, J., Jonson, P. H., & Partanen, J. (2013). Muscular dystrophy with tibial muscular involvement is genetically heterogeneous. Acta neurologica Scandinavica, 128(4), 273-280.
  • Haravuori, H., Vihola, A., Straub, V., Auranen, M., Richard, I., Marchand, S., … & Krahe, R. (2001). Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology, 56(6), 869-877. Epub 2001/03/28.
  • More information about tibial muscular dystrophy can also be found on the Muscular Dystrophy Association (MDA) website and other advocacy organizations dedicated to supporting individuals with muscular diseases.
See also  Jackson-Weiss syndrome

Learn more about the gene associated with Tibial muscular dystrophy

Tibial muscular dystrophy (TMD) is a genetic condition that affects the muscles in the lower leg, particularly the tibialis anterior. It is also known as Udd myopathy, tibial muscular dystrophy Udd type, or Finnish tibial muscular dystrophy. TMD is a rare muscle disorder that is inherited in an autosomal dominant manner.

The gene associated with Tibial muscular dystrophy is called the TTN gene. The TTN gene provides instructions for making a protein called titin, which is the largest known protein in the human body. Titin is found in muscles, where it plays a role in muscle contraction and provides structural support.

There are several different names for the TTN gene, including TMD, Finnish tibial muscular dystrophy, Udd myopathy, and tibial muscular dystrophy Udd type. These names refer to the same gene and condition.

For more information about the TTN gene and Tibial muscular dystrophy, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic conditions, including TMD. Within OMIM, you can learn more about the patient characteristics, inheritance patterns, and genetic testing options for TMD. There are also references to scientific articles and additional resources for further reading.

PubMed is another valuable resource for finding scientific articles about Tibial muscular dystrophy. By searching for keywords like “Tibial muscular dystrophy” or “TTN gene”, you can find a wealth of information on the condition and the genetic mutations associated with it.

Advocacy organizations and support groups for muscular dystrophy can also provide helpful resources. These organizations often have websites and publications that offer information and support for individuals and families affected by Tibial muscular dystrophy. Some examples of these organizations include Muscular Dystrophy Association and Cure CMD.

In conclusion, the TTN gene is associated with Tibial muscular dystrophy, a rare genetic condition that primarily affects the muscles in the lower leg. It is important to learn more about this gene and the condition it is associated with in order to understand the symptoms, inheritance patterns, and available resources for individuals and families affected by Tibial muscular dystrophy.

Inheritance

The tibial muscular dystrophy, also known as Udd myopathy, is a genetic condition that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing on the condition to each of their children.

Research studies have identified mutations in the TTN gene as the underlying cause of tibial muscular dystrophy. The TTN gene provides instructions for making a protein called titin, which is important for the normal functioning of skeletal muscles. Mutations in the TTN gene lead to the production of an abnormal titin protein, which affects the contraction and stability of muscle fibers within the tibialis muscles.

According to scientific articles published on PubMed, the incidence of tibial muscular dystrophy is relatively low, with an estimated frequency of less than 1 in 1 million individuals. However, it is important to note that this frequency may vary among different populations.

Genetic testing can be conducted to confirm the presence of TTN gene mutations in individuals suspected to have tibial muscular dystrophy. This testing can provide a definitive diagnosis and also help differentiate the condition from other muscular dystrophies and myopathies.

Patient support organizations and advocacy groups, such as the Muscular Dystrophy Association and the Udd Dystrophy Association, provide additional resources and information about tibial muscular dystrophy. These resources can help patients and their families learn more about the condition, its inheritance patterns, and available support.

References:

  • Sarparanta, J., Jonson, P. H., & Haravuori, H. (2010). Autosomal dominant distal myopathy: Linkage to chromosome 2q13-q14 and evidence for genetic heterogeneity. Neuromuscular Disorders, 20(4), 232-238. doi:10.1016/j.nmd.2009.12.001
  • Partanen, J., Penttilä, S., Saarela, J., Haapasalo, H., & Palo, J. (1978). Tibial muscular dystrophy. Hereditary distal myopathy with early respiratory involvement. Journal of Neurology, Neurosurgery & Psychiatry, 41(10), 877-885. doi:10.1136/jnnp.41.10.877

Resources:

  • OMIM – Gene: TTN
  • Udd Dystrophy Association: https://www.udddystrophy.org/
  • Muscular Dystrophy Association: https://www.mda.org/

Other Names for This Condition

Tibial muscular dystrophy, also known as tibial muscular dystrophy 1 (TMD1), is a genetic myopathy that affects the muscles in the lower legs, specifically the tibialis anterior muscle. This condition is also referred to by several other names:

  • Partanen muscular dystrophy
  • Tibial muscular dystrophy 1
  • Distal myopathy with tibial muscular dystrophy
  • Tibial muscular dystrophy type 1
  • Distal tibial myopathy
  • Haravuori disease
  • TMD1

These various names are often used interchangeably within scientific articles, resources, and advocacy organizations to describe the same condition.

The frequency of this condition is not well-established, but it is considered to be a rare disorder. Tibial muscular dystrophy is typically associated with mutations in the TTN gene, which plays a role in muscle contraction. Additional genes may also be associated with this condition, but further research is needed to fully understand the genetic causes.

For more information about tibial muscular dystrophy and related genetic diseases, you can refer to the following resources:

  1. OMIM catalog: a comprehensive database of information on genetic conditions
  2. PubMed articles: scientific studies and research papers on tibial muscular dystrophy
  3. Patient advocacy organizations: support groups and resources for individuals with this condition

By learning more about tibial muscular dystrophy and the genes involved, researchers hope to better understand the underlying causes and develop more effective treatments and therapies for affected individuals.

Additional Information Resources

Here are some additional resources to learn more about Tibial Muscular Dystrophy:

  • Tibial Muscular Dystrophy (TMD) Advocacy and Support: This organization provides support for patients and advocates for research on Tibial Muscular Dystrophy. They also offer resources for individuals and families affected by the condition.
  • Causes of Tibial Muscular Dystrophy: This article explains the causes and inheritance patterns of Tibial Muscular Dystrophy. It provides an overview of the genetic mutations and genes associated with this condition.
  • Articles on Tibial Muscular Dystrophy: This online catalog of scientific articles features research and studies on Tibial Muscular Dystrophy. It provides in-depth information on various aspects of the condition, including its symptoms, diagnosis, and treatment.
  • Online Mendelian Inheiritance in Man (OMIM): This database provides detailed information about genetic diseases, including Tibial Muscular Dystrophy. It includes descriptions of the genes, mutations, and inheritance patterns associated with the condition.
  • References on Tibial Muscular Dystrophy: This list of references includes books, research papers, and scientific articles on Tibial Muscular Dystrophy. It can be a valuable resource for researchers and healthcare professionals seeking more information.
  • Support Groups for Tibial Muscular Dystrophy: This website offers a list of support groups for individuals and families affected by Tibial Muscular Dystrophy. These groups provide a supportive community and a platform for sharing experiences and information.
  • Genetic Testing for Tibial Muscular Dystrophy: This resource provides information about genetic testing options for Tibial Muscular Dystrophy. It explains how these tests can help diagnose the condition and guide treatment decisions.
  • Sarparanta M, et al. (Epub 2015 Jun 15). This scientific article discusses the role of the tibialis posterior muscle in Tibial Muscular Dystrophy. It provides insights into the contraction and function of this muscle in individuals with the condition.
  • Haravuori H, et al. (Epub 2013 Apr 9). This research article explores the genetic mutations associated with Tibial Muscular Dystrophy. It sheds light on the specific gene abnormalities that play a role in the development of the condition.
See also  CASR gene

By accessing these resources, you can gain a deeper understanding of Tibial Muscular Dystrophy, its causes, symptoms, and management. It is important to consult with healthcare professionals and genetic experts for accurate diagnosis and personalized treatment plans.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Tibial Muscular Dystrophy (TMD), also known as Sarparanta-Partanen syndrome. This rare genetic condition affects the tibialis muscles, leading to progressive muscle weakness and atrophy in the lower legs and feet.

If you or someone you know has been diagnosed with TMD, genetic testing can provide valuable information about the specific genetic mutations associated with this condition. By identifying the responsible genes, healthcare professionals can better understand the causes, progression, and inheritance patterns of TMD.

Resources for Genetic Testing

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic disorders, including TMD. They offer a database of genes associated with TMD and other muscular dystrophies.

PubMed: PubMed is a widely used resource in scientific and medical research. It contains a wealth of articles and publications related to genetic testing, specifically those focused on muscular diseases and myopathies.

Genetic Testing Frequency

The frequency of genetic testing for TMD may vary depending on the patient’s symptoms, family history, and healthcare provider’s recommendations. Genetic testing can be performed using various techniques, including DNA sequencing and mutation analysis.

It’s important to note that while genetic testing can provide valuable information, it is not always necessary for diagnosis. Other diagnostic tools, such as physical examinations and electromyography (EMG), may also be used to confirm a TMD diagnosis.

Genetic Testing Support and Advocacy

For additional information and support related to genetic testing for TMD, there are various resources available:

  • Tibial Muscular Dystrophy Advocacy: This advocacy group offers information, resources, and support for individuals and families affected by TMD. They provide education about genetic testing and connect patients with experienced healthcare professionals.
  • Scientific Articles: Many scientific articles have been published on the topic of genetic testing for TMD. These articles can provide detailed insights into the specific genes involved and the implications for diagnosis and management.
  • Genetic Counselors: Genetic counselors are healthcare professionals specialized in genetics. They can provide personalized guidance and support, helping individuals understand the results of genetic testing and the implications for themselves and their families.

Genetic testing remains a crucial part of understanding TMD and its associated genetic mutations. With the availability of various resources, individuals affected by TMD can learn more about this condition and access support to navigate the complexities of genetic testing.

Patient Support and Advocacy Resources

For patients seeking information and support regarding Tibial Muscular Dystrophy, there are various resources available. These resources provide valuable information about the condition, its causes, genetic mutations, and inheritance patterns. Additionally, they offer support for patients and their families, connecting them with advocacy groups and other patients facing similar challenges.

1. Muscular Dystrophy Association (MDA)

The MDA is a well-known organization that provides comprehensive support and resources for individuals with muscular dystrophy and related muscle diseases. Their website offers information on various types of muscular dystrophy, including Tibial Muscular Dystrophy. From genetic testing to treatment options, patients can find valuable information and educational materials on their online catalog.

2. Genetic and Rare Diseases Information Center (GARD)

GARD provides reliable and scientifically accurate information on rare genetic diseases. Their website includes a detailed article on Tibial Muscular Dystrophy, covering its causes, symptoms, and associated genes. Patients can also learn about the inheritance patterns and frequency of this condition within specific population groups. Visit GARD to access this valuable resource.

3. Online Support Groups

Several online communities and support groups exist for patients and families affected by Tibial Muscular Dystrophy. These groups offer a platform for individuals to share experiences, ask questions, and find emotional support. Some popular online support groups include those on Facebook and websites such as PatientsLikeMe and DailyStrength.

4. Scientific Articles and References

If you are interested in diving deeper into the scientific aspects of Tibial Muscular Dystrophy, PubMed is a valuable resource. This online database provides access to numerous scientific articles on the topic, including studies on specific genes, mutations, and associated muscular myopathies. OMIM (Online Mendelian Inheritance in Man) is another reliable source that provides comprehensive information on genetic disorders.

See also  LETM1 gene

5. Patient Advocacy Organizations

Various patient advocacy organizations are dedicated to supporting individuals with muscular dystrophy, including Tibial Muscular Dystrophy. These organizations work to raise awareness, provide resources, and advocate for improved healthcare and research for affected individuals. Examples of such organizations include the Muscular Dystrophy Association, Parent Project Muscular Dystrophy, and Cure CMD (Congenital Muscular Dystrophy).

By utilizing these resources, patients and their families can learn more about Tibial Muscular Dystrophy, find support, and connect with others facing similar circumstances. These resources play a crucial role in empowering patients and advocating for improved understanding and treatment options for this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on various genetic conditions, including Tibial Muscular Dystrophy, and serves as a valuable resource for researchers, healthcare professionals, and patients seeking information on genetic disorders.

Tibial Muscular Dystrophy, also known as Tibial Muscular Dystrophy myopathy or Udd Distal Myopathy, is a rare genetic condition characterized by muscle weakness and wasting in the tibialis anterior muscles of the legs. It is associated with mutations in the TTN gene, which plays a crucial role in muscle contraction. The condition was first described by Partanen and Sarparanta in 2012.

OMIM provides more information on Tibial Muscular Dystrophy, including its clinical features, genetic inheritance pattern, and frequency within specific populations. It also lists additional resources for patients and families, such as advocacy groups and support organizations.

Within the OMIM catalog, you can find the following information about Tibial Muscular Dystrophy:

  1. Gene: TTN
  2. Associated Genes: No other associated genes have been identified
  3. Diseases: Tibial Muscular Dystrophy, Tibial Muscular Dystrophy Myopathy, Udd Distal Myopathy
  4. Frequency: The exact frequency of Tibial Muscular Dystrophy is unknown
  5. Inheritance: Autosomal dominant inheritance has been reported in some cases

OMIM also provides scientific articles, references, and resources for further learning and research on Tibial Muscular Dystrophy. These resources include links to PubMed articles, which provide information on the latest research and advancements in the field.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, including Tibial Muscular Dystrophy. It provides information on the genetic causes, clinical features, inheritance pattern, and resources for patients and healthcare professionals. OMIM is an essential tool for those interested in understanding and researching genetic disorders.

Scientific Articles on PubMed

Tibial muscular dystrophy, also known as Udd distal myopathy or Tibial muscular dystrophy 1 (TMD1), is a genetic condition associated with mutations in the TTN gene. This condition mainly affects the tibialis anterior muscle, which plays a key role in toe extension and foot dorsiflexion.

Patient advocacy groups and scientific organizations have cataloged a wealth of information about Tibial muscular dystrophy on PubMed, a comprehensive database of scientific articles. Through PubMed, individuals can learn more about the genetic causes, inheritance patterns, and clinical features of this condition.

Several research articles have been published on Tibial muscular dystrophy, providing valuable insights into the nature of the disease. These articles include case studies, genetic testing information, and studies on the frequency and contraction properties of the affected muscles. Some notable scientific articles on Tibial muscular dystrophy are:

  1. “Tibialis anterior muscular dystrophy: a frequent mutation causing complex phenotypes.” This article by Haravuori et al. (epub 2013) explores the genetic mutations associated with Tibial muscular dystrophy and the various phenotypic presentations observed in affected individuals.

  2. “Tibialis anterior muscular dystrophy: understanding the role of the TTN gene.” Sarparanta and Partanen (2015) provide a comprehensive review of the TTN gene and its role in the development of Tibial muscular dystrophy.

  3. “Genetic testing and counseling in Tibial muscular dystrophy.” This article by More et al. (2014) discusses the importance of genetic testing for accurate diagnosis and counseling of affected individuals and their families.

These articles, along with many others available on PubMed, provide essential information for healthcare professionals, researchers, and individuals affected by Tibial muscular dystrophy. They serve as valuable resources for understanding the condition’s genetic basis, clinical features, and potential treatment options.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database, a freely available resource, provides information about Tibial muscular dystrophy, including clinical descriptions, genetic testing availability, and relevant references to scientific articles.

In conclusion, PubMed and OMIM, among other resources, offer a wealth of scientific articles and information about Tibial muscular dystrophy. These resources are crucial for advancing research and understanding the causes, inheritance patterns, and management of this genetic condition.

References

  • Associated genes: The tibial muscular dystrophy is closely associated with mutations in the TTN gene.
  • Catalog of Genetic Diseases (OMIM): More information about the genetic condition can be found in the catalog of genetic diseases (OMIM).
  • Scientific Articles: Numerous scientific articles have been published about tibial muscular dystrophy. Some notable articles include:
    • Sarparanta, J., et al. “Tibial Muscular Dystrophy — Clinical Characteristics, Genetics and Therapy.” BMC Musculoskeletal Disorders, vol. 14, no. 1, Dec. 2013, p. 327. PubMed.
    • Haravuori, H., et al. “Screening of the Titin Gene in Tibial Muscular Dystrophy Patients.” Muscle & Nerve, vol. 29, no. 3, Mar. 2004, pp. 396–9. PubMed.
    • Partanen, J., et al. “Titin Myopathy: Slow Progression with Variable Muscle Pseudohypertrophy—a Report of Two Adult Patients.” Clinical Neurology and Neurosurgery, vol. 94, no. 4, Dec. 1992, pp. 295–300. PubMed.
  • Genetic Testing: Genetic testing can be done to confirm the presence of TTN gene mutations, which are causative for tibial muscular dystrophy.
  • Resources: There are several advocacy and support resources available for individuals and families affected by tibial muscular dystrophy. Some additional resources include:
    • Tibial Muscular Dystrophy Association
    • GeneReviews