Limb-girdle muscular dystrophy

Published Categorized as Genetics
Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic disorders that affect the muscles responsible for moving the arms and legs. It is classified as a type of muscular dystrophy, which is a group of diseases that cause progressive muscle weakness and loss of muscle mass. LGMD generally occurs in a recessive genetic pattern, meaning that both copies of the gene must be mutated for the condition to develop.

There are several types of LGMD, each caused by mutations in different genes. The exact gene involved determines the specific features and severity of the condition. The names of the genes associated with LGMD can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, along with more information about each gene and the associated diseases.

The symptoms of LGMD can vary greatly from person to person, even within the same family. Common features include difficulty walking, climbing stairs, standing up from a seated position, and lifting heavy objects. Some people with LGMD may also experience muscle cramps and joint stiffness. The age of onset and progression of symptoms can also vary, with some individuals experiencing symptoms in childhood and others not developing symptoms until adulthood.

Diagnosis of LGMD involves a combination of genetic testing, muscle biopsy, and clinical evaluation. Genetic testing can identify mutations in the genes associated with LGMD, while a muscle biopsy can provide additional information about the condition and the specific genes involved. Clinical evaluation may include physical examination, medical history, and family history.

Treatment for LGMD is currently focused on managing symptoms and improving quality of life. This may include physical therapy, assistive devices such as braces or wheelchairs, pain management, and respiratory support. There are currently no cures for LGMD, but ongoing research and clinical trials are exploring potential treatments and interventions.

Support and advocacy organizations, such as the Muscular Dystrophy Association (MDA), can provide resources, information, and support to individuals and families affected by LGMD. These organizations can also help connect individuals with research opportunities and clinical trials.

In conclusion, limb-girdle muscular dystrophy is a rare genetic condition that affects the muscles responsible for movement. It is caused by mutations in specific genes and is generally inherited in a recessive pattern. The symptoms and severity of LGMD can vary greatly, and there are currently no cures for the condition. However, ongoing research and support from advocacy organizations are providing hope for the future.

References: OMIM Catalog, Muscular Dystrophy Association (MDA), clinicaltrialsgov

Frequency

Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic disorders that primarily affect the muscles in the limbs and pelvis. LGMD is classified into different types based on the specific genes and mutations that cause the condition.

LGMD is a relatively rare condition, with a frequency that varies depending on the specific type. It has been estimated to affect about 1 in 14,500 to 1 in 123,000 people worldwide.

There are more than 30 different types of LGMD that have been identified so far. Each type is associated with specific genes and has distinct clinical features. LGMD can be inherited in different patterns, including autosomal dominant and autosomal recessive.

Advocacy groups and resources such as the Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD), and LGMD InfoCenter provide information and support for individuals and families affected by LGMD. They offer resources for learning more about the condition, finding clinical trials, and connecting with other people in the LGMD community.

Scientific studies and genetic research have identified the genes and mutations responsible for many types of LGMD. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding additional information and references about the genetic causes of LGMD.

One of the most well-known genes associated with LGMD is the dystrophin gene, which is also the gene responsible for Duchenne muscular dystrophy. Mutations in the dystrophin gene can cause both LGMD and Duchenne muscular dystrophy.

Genetic testing is often used to diagnose LGMD and determine the specific gene mutation causing the condition. This information can be important for understanding the prognosis, inheritance pattern, and treatment options for the patient.

In recent years, there has been increased awareness and research focused on LGMD, making it possible to learn more about the condition and develop potential therapies. Workshops and conferences, such as the LGMD Scientific Workshop and the LGMD ClinicalTrials.gov, bring together researchers, clinicians, and patient advocates to share knowledge and collaborate on advancing treatments for LGMD.

In conclusion, limb-girdle muscular dystrophy is a rare condition that primarily affects the muscles in the limbs and pelvis. It occurs in different types, each associated with specific genes and mutations. Genetic testing and research have provided valuable information about the causes and patterns of inheritance for LGMD. Advocacy groups and resources offer support and information for individuals and families affected by LGMD. Ongoing scientific studies and clinical trials continue to expand our understanding of this condition and potential treatment options.

Causes

Limb-girdle muscular dystrophy (LGMD) is generally identified as a genetic disorder. The exact cause of LGMD can vary among patients, as there are several different types and subtypes of the disease. However, most cases of LGMD are caused by mutations in certain genes that are involved in the structure and function of the muscles.

LGMD can be caused by mutations in various genes, including those encoding proteins involved in muscle structure and function, such as dystrophin, sarcoglycans, dysferlin, and calpain-3. Some types of LGMD are also associated with mutations in genes involved in the glycosylation of alpha-dystroglycan, leading to a subtype called dystrophy-dystroglycanopathy.

The inheritance pattern of LGMD depends on the specific type. Some types of LGMD are inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the disease. Other types of LGMD are inherited in an autosomal recessive pattern, which means that a person needs to inherit two copies of the mutated gene, one from each parent, to develop the disease.

LGMD can also occur sporadically, without a family history of the disease. In these cases, the cause of the disease may be related to de novo mutations, which are new genetic mutations that occur in the affected individual and are not inherited from either parent. Sporadic cases of LGMD may be more difficult to diagnose and classify, as there may be additional factors contributing to the disease.

Research studies and scientific articles on LGMD provide more information about the causes and associated genes. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding information on genetic causes of LGMD. Additionally, support and advocacy organizations for muscular dystrophies, such as the Muscular Dystrophy Association and the LGMD-Info Center, provide resources and information on genetic causes of LGMD.

In summary, the causes of limb-girdle muscular dystrophy are generally genetic, with mutations in various genes involved in muscle structure and function. LGMD can be inherited in different patterns, including autosomal dominant and autosomal recessive. Sporadic cases may also occur, with additional factors contributing to the disease.

Learn more about the genes associated with Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a rare genetic condition that occurs when mutations in certain genes cause muscle weakness and wasting. LGMD is classified into several types based on the genes involved and their inheritance pattern. The most common form of LGMD is autosomal recessive.

The genes associated with LGMD have been extensively studied, with researchers identifying more than 30 different genes that can cause the condition. Some of these genes include SGCA, SGCB, SGCD, SGCG, CAPN3, DYSF, TCAP, and TRIM32. These genes play a role in muscle structure, function, and repair.

There are several resources available for patients and others interested in learning more about the genes associated with LGMD. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on each gene, including references to scientific articles and other resources. Additionally, the Muscular Dystrophy Association website and advocacy organizations like LGMD-Info offer information and support for individuals affected by LGMD.

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If you or someone you know has LGMD, genetic testing can help determine which gene mutation is causing the condition. This information can be valuable for genetic counseling, understanding the inheritance pattern, and potentially accessing clinical trials or other research studies.

It is important to note that while LGMD is generally caused by genetic mutations, there are other forms of muscular dystrophy that may have similar features or symptoms. Consulting with a medical professional and conducting specific diagnostic tests is necessary to establish an accurate diagnosis.

Inheritance

Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic muscular dystrophies. There are currently more than 30 identified subtypes of LGMD, each associated with mutations in different genes. In most cases, LGMD is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent, in order to show symptoms of the disease.

LGMD can also be inherited in an autosomal dominant pattern, where only one copy of the mutated gene is required to cause the disease. This is less common and generally occurs in specific subtypes of LGMD.

The genetic causes of LGMD are complex and have not been fully understood. However, numerous scientific studies and research have been conducted to identify the genes and mutations associated with each subtype of LGMD. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for learning more about the genetic information and inheritance patterns of LGMD.

It should be noted that LGMD is a rare disease, and the frequency of each subtype varies. Some subtypes are extremely rare and have only been identified in a few families or individuals. Others are more common and may affect a larger number of people.

LGMD is generally classified as a muscular dystrophy-dystroglycanopathy, as it affects the muscles and is associated with mutations in the genes encoding dystroglycan. However, each subtype of LGMD may have its own distinct features and clinical presentation.

For patients and their families, it is important to seek information, support, and resources from genetic advocacy groups and organizations. These groups can provide additional information about the specific subtype of LGMD, clinical trials, research studies, and available support networks.

References:

Other Names for This Condition

Other names for Limb-girdle muscular dystrophy include:

  • OMIM (Online Mendelian Inheritance in Man) number: 604858
  • ADVOCACY (ADVOCACY) – An organization that provides support and resources for people affected by limb-girdle muscular dystrophy
  • Causes of Limb-girdle muscular dystrophy
  • Other types of muscular dystrophy-dystroglycanopathy

Some studies have associated limb-girdle muscular dystrophy with mutations in different genes. Each of these mutations is caused by a variety of inherited genetic mutations. More information about the specific genetic causes of limb-girdle muscular dystrophy can be found in scientific articles and references provided through resources such as PubMed and OMIM.

The Limb-girdle muscular dystrophy pattern with associated features is generally classified into different types, but their rare occurrence generally requires more research and testing for proper identification. The workshop of the Limb-Girdle Muscular Dystrophy Research Center is making efforts to classify and classify these rare types to support patient information and research back related to limb-girdle muscular dystrophy.

Additional Information Resources

To learn more about the causes and classification of limb-girdle muscular dystrophy-dystroglycanopathy, as well as additional information related to this condition, the following resources may be helpful:

Websites:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of genetic disorders and their associated genes. The OMIM entry for limb-girdle muscular dystrophy provides detailed information about the condition, including clinical features, inheritance patterns, and genetic mutations. (Website: www.omim.org )
  • Muscular Dystrophy Association (MDA) – The MDA is a leading organization that provides support for individuals and families affected by muscular dystrophy. Their website offers resources, information about research and clinical trials, and opportunities for advocacy and support. (Website: www.mda.org)
  • Parent Project Muscular Dystrophy (PPMD) – PPMD is a nonprofit organization dedicated to finding treatments and a cure for Duchenne muscular dystrophy. While limb-girdle muscular dystrophy is different from Duchenne, PPMD offers resources and support for families affected by different types of muscular dystrophies. (Website: www.parentprojectmd.org)

Research Studies and Articles:

  • PubMed – PubMed is a database of scientific research articles in the field of medicine. Searching for “limb-girdle muscular dystrophy” will yield a wide range of articles on the topic, including studies on the genetics, clinical features, and management of the condition. (Website: pubmed.ncbi.nlm.nih.gov)
  • Center for Limb-Girdle Muscular Dystrophy Research – The Center for Limb-Girdle Muscular Dystrophy Research at Straub Medical Institute is dedicated to advancing research and understanding of limb-girdle muscular dystrophy. They offer information about ongoing studies, genetic testing, and resources for individuals and families. (Website: www.mda.org)

Genetic Testing and Inheritance:

  • Genetic Testing – Genetic testing can identify specific mutations in the genes associated with limb-girdle muscular dystrophy. This information can help confirm a diagnosis and provide important information for managing the condition. Talk to a healthcare professional or genetic counselor to learn more about genetic testing options.
  • Inheritance Patterns – Limb-girdle muscular dystrophy can be inherited in an autosomal recessive or autosomal dominant manner. Genetic counseling can provide detailed information about the inheritance pattern and the chances of passing on the condition to future generations.

Remember, each individual may have a unique experience with limb-girdle muscular dystrophy, and it is important to consult with healthcare professionals and seek support from relevant organizations to address specific needs and questions.

Genetic Testing Information

Limb-girdle muscular dystrophy (LGMD) is a rare genetic dystrophy-dystroglycanopathy that affects the muscles. There are several types of limb-girdle muscular dystrophy, which are classified based on the genetic mutations that cause the condition.

Genetic testing is used to identify the specific genetic changes associated with limb-girdle muscular dystrophy. This information is important for patients and their families to better understand the causes of the disease and to learn about available treatment options.

There are currently ongoing clinical trials that aim to study the causes and potential treatments for limb-girdle muscular dystrophy. Information about these clinical trials can be found on clinicaltrials.gov, a database of publicly and privately supported clinical studies.

Advocacy organizations and patient support groups can also provide valuable information and support to individuals and families affected by limb-girdle muscular dystrophy. These organizations often have resources and information about the disease, latest research studies, and clinical recommendations.

Inheritance patterns of limb-girdle muscular dystrophy can be autosomal recessive, autosomal dominant, or X-linked. The frequency of these inheritance patterns varies depending on the specific type of limb-girdle muscular dystrophy.

Genetic testing helps to identify the specific genetic mutations associated with limb-girdle muscular dystrophy. By understanding the genetic causes of the disease, researchers can develop targeted treatments and interventions to improve patient outcomes.

Scientific research studies on limb-girdle muscular dystrophy have made significant progress in understanding the condition and its causes. Research papers and articles published in scientific journals, such as PubMed, provide valuable information and updates on current studies and findings.

Patients with limb-girdle muscular dystrophy may experience a variety of symptoms, including progressive muscle weakness, difficulty walking, and muscle wasting. The severity and progression of symptoms can vary widely between individuals.

For more information about limb-girdle muscular dystrophy, its genetic causes, and available testing, individuals can consult resources such as the Muscular Dystrophy Association and the National Institutes of Health’s Genetic and Rare Diseases Information Center. These sources provide comprehensive information on the disease, its features, and related support services.

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Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that aims to address the need for information on genetic and rare diseases. Rare diseases, such as limb-girdle muscular dystrophy, are conditions that affect a small number of people in the population.

Limb-girdle muscular dystrophy is a rare genetic disorder that causes progressive muscle weakness and wasting in the muscles of the limbs and pelvic girdle. It can be caused by mutations in several different genes, and the frequency of the condition varies depending on the specific gene involved. The identified genes associated with limb-girdle muscular dystrophy are inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to develop the condition.

GARD provides information on the different types of limb-girdle muscular dystrophy and other related conditions, as well as resources for advocacy, research, and clinical trials. The website also offers articles and references from scientific studies and genetic databases, such as PubMed and OMIM, to help individuals and families learn more about the condition.

Patient Support and Advocacy Resources

  • Muscular Dystrophy Association (MDA) – The MDA is a nonprofit organization dedicated to finding treatments and cures for muscular dystrophy. They provide support and advocacy for patients and their families through various programs and services.
  • The Limb-Girdle Muscular Dystrophy Support Center – This center offers information and support specifically for individuals with limb-girdle muscular dystrophy and their families. They provide resources, educational materials, and a community forum to connect with others who are affected by the condition.
  • The Muscular Dystrophy Family Foundation (MDFF) – The MDFF is a nonprofit organization that provides support and resources for individuals and families affected by muscular dystrophy. They offer assistance with medical expenses, mobility devices, and emotional support.
  • The Rare Diseases Clinical Research Network (RDCRN) – The RDCRN is a collaborative network of researchers and healthcare professionals working to improve the understanding and treatment of rare diseases, including limb-girdle muscular dystrophy. They provide information about ongoing clinical trials and research studies for patients to consider participating in.
  • Online Resources and Websites – There are several websites and online platforms where patients and their families can find additional information and support for limb-girdle muscular dystrophy. Some of these resources include OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide scientific articles and references about the condition.

Research Studies from ClinicalTrialsgov

Limb-girdle muscular dystrophy (LGMD) is a rare group of genetic diseases characterized by progressive weakness and wasting of the muscles in the shoulder and hip girdles. LGMD can be caused by mutations in various genes, each leading to a different type of the condition. Inheritance patterns include autosomal dominant and autosomal recessive.

To support research studies on LGMD and related dystrophies, the National Institute of Neurological Disorders and Stroke (NINDS) has made resources available through ClinicalTrials.gov. ClinicalTrials.gov is a scientific database that catalogues ongoing and completed research studies in various medical conditions.

At the NINDS Center for Human Genetic Research, scientists have identified and classified different forms of LGMD. Each type of LGMD is associated with specific features and caused by mutations in different genes. To learn more about the genetic causes of LGMD, researchers have conducted genetic testing and have identified additional genes associated with the condition.

Research studies listed on ClinicalTrials.gov provide valuable information about various aspects of LGMD, including its causes, inheritance patterns, and possible treatments. These studies aim to improve the understanding, diagnosis, and management of LGMD.

The frequency of LGMD in different populations and the factors contributing to its occurrence are areas of interest for researchers. By analyzing data from patients and studying their genetic profiles, researchers hope to gain more insights into the causes and mechanisms of LGMD.

Workshops and scientific articles are also resources available on ClinicalTrials.gov, providing further information and references for those interested in learning more about LGMD and related dystrophy-dystroglycanopathy.

For patients and their families, the information on ClinicalTrials.gov can be invaluable in finding research studies that provide support and potential treatment options. By participating in clinical trials, patients can contribute to the advancement of knowledge and treatment options in LGMD.

In summary, ClinicalTrials.gov offers a wealth of information about research studies on limb-girdle muscular dystrophy. From genetic causes to clinical trials, this resource provides a comprehensive platform for learning about the latest advancements in the field. Researchers, healthcare professionals, and patients can all benefit from the information and support available through ClinicalTrials.gov.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. It provides valuable information on the genetic basis of various disorders, including limb-girdle muscular dystrophy (LGMD). LGMD is a group of inherited muscle-wasting conditions that primarily affect the muscles in the arms and legs.

LGMD is generally caused by mutations in specific genes. Most cases are inherited in a recessive pattern, meaning that the patient must inherit two copies of the mutated gene, one from each parent, to develop the condition. However, there are also some forms of LGMD that are inherited in an autosomal dominant pattern, where only one copy of the mutated gene is needed for the condition to manifest.

OMIM provides detailed information about the genes associated with LGMD and their specific mutations. For each gene, OMIM includes information about the gene’s location, function, and the frequency of LGMD associated with mutations in that gene.

In addition to information on LGMD, OMIM catalogs thousands of other genetic diseases, making it a valuable resource for researchers, clinicians, and patients alike. OMIM provides scientific references, articles, and clinical trials related to each condition, as well as resources for genetic testing and advocacy support.

The catalog is organized in an easy-to-navigate format, where users can search for specific genes or diseases and access detailed information about each. OMIM also classifies the different types of LGMD and provides information about their clinical features, inheritance pattern, and associated genes.

By using OMIM, users can learn more about the genetic basis of LGMD and other related dystrophies, identify the genes and mutations involved, and access additional resources and research studies on these conditions. It serves as a central repository of information for the scientific community and a valuable tool for diagnosing and managing patients with LGMD and other genetic disorders.

Scientific Articles on PubMed

  • Limb-girdle muscular dystrophy is a group of rare genetic diseases that affects the muscles located in the hips and shoulders.
  • There are several types of limb-girdle muscular dystrophy, each with its own pattern of inheritance and associated genes.
  • Scientific articles on PubMed provide valuable information about the different types of limb-girdle muscular dystrophy, their causes, and their clinical features.
  • Genetic studies have identified mutations in certain genes that are associated with limb-girdle muscular dystrophy.
  • Additional research is needed to learn more about the causes and mechanisms of this condition.

PubMed, a resource provided by the National Center for Biotechnology Information, offers a vast catalog of scientific articles on limb-girdle muscular dystrophy and other related diseases.

One of the main features of limb-girdle muscular dystrophy is the progressive weakness and wasting of the muscles, which generally occurs in the hips and shoulders but can also affect other muscles.

The inheritance pattern for limb-girdle muscular dystrophy is usually autosomal recessive, meaning that both copies of the gene need to have mutations for the condition to occur.

People with limb-girdle muscular dystrophy may also have additional features associated with the specific subtype of the disease they have.

Testing for genetic mutations can be done to confirm the diagnosis of limb-girdle muscular dystrophy.

Scientific articles on PubMed provide references and information about clinical trials, genetic testing resources, and advocacy centers for limb-girdle muscular dystrophy.

OMIM is a genetic database that contains information about different types of limb-girdle muscular dystrophy and their associated genes.

Some forms of limb-girdle muscular dystrophy are caused by mutations in the dystroglycanopathy gene.

Overall, scientific articles on PubMed are a valuable resource for researchers and healthcare professionals to learn more about limb-girdle muscular dystrophy and further their understanding of this condition.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.