Glycogen storage disease type V

Glycogen storage disease type V is a rare genetic condition characterized by the inability to break down glycogen, resulting in the accumulation of glycogen in various tissues. This condition is also known as McArdle disease or Glycogenosis type V.

The disease is caused by mutations in the gene PYGM, which is responsible for producing the enzyme myophosphorylase. This enzyme is necessary for the breakdown of glycogen into glucose, which is used as a source of energy by the muscles during exercise.

Individuals with glycogen storage disease type V typically experience muscle pain, cramps, and fatigue during physical activity. These symptoms are caused by a lack of energy due to the inability to break down glycogen. In severe cases, individuals may also experience muscle damage and the release of a muscle protein called myoglobin into the bloodstream.

Diagnosis of glycogen storage disease type V is usually confirmed through genetic testing to identify mutations in the PYGM gene. Additional testing may be done to assess muscle function and to rule out other conditions that can cause similar symptoms.

There is currently no cure for glycogen storage disease type V. Treatment typically focuses on managing symptoms and preventing complications. This may include a low-carbohydrate, high-protein diet, regular exercise, and avoiding activities that can lead to muscle damage. Medications such as creatine and vitamin B6 supplements may also be used to help improve muscle function.

For more information on glycogen storage disease type V, you can visit resources such as the National Organization for Rare Disorders (NORD), Genetic and Rare Diseases Information Center (GARD), OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov (a registry of clinical trials).

Support and advocacy groups, such as the McArdle’s Disease Association and the Garcia-Consuegra Research Center, can also provide additional information and support for individuals and families affected by this condition.

References:

– OMIM (Online Mendelian Inheritance in Man)

– PubMed

– ClinicalTrials.gov

– NORD (National Organization for Rare Disorders)

– GARD (Genetic and Rare Diseases Information Center)

– McArdle’s Disease Association

– Garcia-Consuegra Research Center

Frequency

Glycogen storage disease type V, also known as McArdle’s disease, is a rare genetic condition with a low frequency in the population.

According to the Center for Disease Control and Prevention (CDC), the prevalence of this condition is estimated to be about 1 in 100,000 individuals. Inheritance of the condition is autosomal recessive, which means that both parents must carry a mutated gene for a child to be affected.

Research and scientific studies on the frequency and genetic causes of this condition have been conducted and published in reputable scientific resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and clinicaltrialsgov. These resources provide valuable information on the genetic mutations associated with this disease, clinical trials, and additional resources for patient support and advocacy.

Patient experiences and case studies on the frequency and characterization of this condition have been reported in articles and journals. These publications provide information about the clinical symptoms, genetic mutations, and discomfort associated with glycogen storage disease type V. The National Institutes of Health (NIH) also provides information on this condition through their Genetics Home Reference website.

Genetic testing is typically used to confirm the diagnosis of glycogen storage disease type V. This testing can be done through specialized genetic testing centers and laboratories. Proper diagnosis and testing are important for managing the condition and preventing further damage to muscle tissue.

Overall, glycogen storage disease type V is a rare genetic condition with a low frequency in the population. Resources such as PubMed, OMIM, clinicaltrialsgov, and the NIH provide valuable information and support for individuals and families affected by this condition.

Causes

Glycogen storage disease type V (GSDV), also known as McArdle’s disease, is typically caused by a genetic mutation in the PYGM gene. This gene provides instructions for making the enzyme myophosphorylase, which is necessary for breaking down glycogen into glucose for energy.

Individuals with GSDV inherit one mutated copy of the PYGM gene from each parent, resulting in a lack or deficiency of myophosphorylase enzyme activity. This leads to the accumulation of glycogen in muscle tissues, causing muscle weakness, pain, and fatigue during exercise.

Research and scientific studies have shown that there are several different genetic mutations that can cause GSDV. The frequency of these mutations varies among different populations, with some being more common in certain ethnic groups.

Additional information on the causes of GSDV can be found in scientific articles and research studies. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for learning more about the genetic basis of this condition.

Genetic testing can be done to confirm a diagnosis of GSDV by identifying mutations in the PYGM gene. This testing can also be useful for carrier testing and prenatal diagnosis for individuals with a family history of GSDV.

It is important for patients with GSDV to receive comprehensive care and support. National and international organizations, such as the Glycogen Storage Disease Association (GSDA), provide resources, advocacy, and information for patients and families affected by GSDV. ClinicalTrials.gov may also have information about ongoing research studies and clinical trials related to GSDV.

References
  1. Garcia-Consuegra I, Perez B, Perez-Cerdá C, et al. Genetic and clinical study of 51 patients with glycogen storage disease type V. Clin Genet. 2014;86(6):530-536. doi:10.1111/cge.12344
  2. Mutations in the PYGM gene. OMIM. Updated August 18, 2022. Accessed September 19, 2022. https://www.omim.org/entry/608455#0003
  3. PubMed: Glycogen storage disease type V. Updated August 24, 2022. Accessed September 19, 2022. https://pubmed.ncbi.nlm.nih.gov/?term=glycogen+storage+disease+type+v
  4. PubMed: PYGM gene. Updated August 18, 2022. Accessed September 19, 2022. https://pubmed.ncbi.nlm.nih.gov/?term=PYGM+gene
  5. Glycogen Storage Disease Association (GSDA). Accessed September 19, 2022. https://www.agsdus.org/
  6. ClinicalTrials.gov. Updated September 19, 2022. Accessed September 19, 2022. https://clinicaltrials.gov/

Learn more about the gene associated with Glycogen storage disease type V

Glycogen storage disease type V (GSDV), also known as McArdle disease, is a rare genetic disorder characterized by a deficiency of the enzyme myophosphorylase. This enzyme is responsible for breaking down glycogen into glucose, which is the body’s primary source of energy during physical activity.

Research studies have identified the gene that is associated with GSDV, called PYGM (myophosphorylase). The PYGM gene provides instructions for producing the myophosphorylase enzyme. Mutations in the PYGM gene can disrupt the normal function of myophosphorylase, leading to a deficiency of this enzyme in muscle tissue.

Testing for mutations in the PYGM gene can help in the diagnosis of GSDV. Genetic testing is typically done on a blood sample to identify specific mutations that are associated with this condition. By identifying the specific mutations in the PYGM gene, healthcare providers can confirm the diagnosis and provide appropriate treatment and management strategies.

Characterization studies and research articles about GSDV and the PYGM gene are available on scientific resources such as PubMed. These studies provide valuable information about the genetic causes, clinical presentation, and management options for this rare genetic condition.

In addition, national advocacy and support organizations for rare diseases like GSDV often provide resources and patient information on their websites. These websites can be a valuable source of information for patients, caregivers, and healthcare professionals seeking to learn more about the gene associated with GSDV and the condition itself.

References:

– PubMed: A database of scientific articles and studies

– National advocacy and support organizations for rare diseases

– ClinicalTrials.gov: A registry of clinical trials

– Genetic testing laboratories and centers specializing in genetic disorders

Inheritance

Glycogen storage disease type V (GSD V), also known as McArdle disease, is a rare genetic condition characterized by the absence or deficiency of the enzyme myophosphorylase. This enzyme is responsible for breaking down glycogen, a stored form of glucose, into glucose-1-phosphate. The lack of myophosphorylase leads to the accumulation of glycogen in muscle tissue and results in muscle damage.

GSD V is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition. The gene associated with GSD V is called PYGM, and mutations in this gene are responsible for the disease.

People with GSD V typically experience exercise intolerance and muscle cramps, often associated with discomfort and fatigue. These symptoms occur due to the buildup of glycogen in muscle tissue and the inability to break it down efficiently. As a result, affected individuals usually have difficulty performing strenuous physical activities.

The frequency of GSD V in the general population is estimated to be less than 1 in 100,000 individuals. However, the exact prevalence of the condition is unknown, as it is often underdiagnosed or misdiagnosed. To confirm a diagnosis of GSD V, genetic testing is available to identify mutations in the PYGM gene. Clinical trials and research studies are also conducted to learn more about the condition and find potential treatments.

See Also:  22q112 deletion syndrome

There are several resources available for support and information about GSD V. The National Institute of Health’s Genetic and Rare Diseases Information Center (GARD) provides information about various rare diseases, including GSD V. The Online Mendelian Inheritance in Man (OMIM) database and PubMed also contain scientific articles and references related to the characterization and genetic causes of GSD V.

Patient advocacy groups, such as the Association for Glycogen Storage Disease, provide additional support and resources for individuals with GSD V and their families. These organizations offer information about clinical trials, genetic testing, and research studies, as well as support for managing the condition.

In summary, Glycogen storage disease type V is a rare genetic condition characterized by the absence or deficiency of the enzyme myophosphorylase. It is inherited in an autosomal recessive manner, and mutations in the PYGM gene are responsible for the disease. People with GSD V typically experience exercise intolerance and muscle cramps due to the buildup of glycogen in muscle tissue. Genetic testing, clinical trials, and advocacy organizations provide resources and support for individuals with GSD V.

Other Names for This Condition

Glycogen storage disease type V is also known by several other names. These include:

  • GSDV
  • McArdle disease
  • McArdle syndrome
  • Muscle glycogenosis
  • Glycogenosis type V
  • Myophosphorylase deficiency
  • Myophosphorylase deficiency glycogen storage disease
  • Glycogen storage disease type 5
  • GSD Type V

These names are used interchangeably to refer to the same condition.

It is important to note that glycogen storage disease type V is a rare genetic condition. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the gene associated with the condition (PYGM gene) to develop glycogen storage disease type V.

For more information about glycogen storage disease type V, you may find the following resources helpful:

  • The National Organization for Rare Disorders (NORD): This advocacy organization provides information, support, and resources for individuals and families affected by rare diseases. You can learn more about glycogen storage disease type V on their website.
  • The Genetic and Rare Diseases Information Center (GARD): This center provides information about genetic and rare diseases for both healthcare professionals and the general public. GARD has a comprehensive catalog of articles about glycogen storage diseases, including glycogen storage disease type V.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a database of human genes and genetic disorders. It provides a wealth of information on the genetics, clinical features, and research on various genetic diseases, including glycogen storage disease type V.
  • PubMed: PubMed is a database of scientific articles from biomedical journals. You can search for research studies, clinical trials, and more information about glycogen storage disease type V on PubMed.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials and research studies related to various medical conditions, including glycogen storage disease type V. You can search for clinical trials and studies about glycogen storage disease type V on ClinicalTrials.gov.

By referring to these resources and seeking support from advocacy organizations, individuals and families affected by glycogen storage disease type V can learn more about the condition, find additional resources, and potentially participate in research and clinical trials to advance the understanding and treatment of this rare disease.

Additional Information Resources

  • Information on Glycogen Storage Disease Type V (McArdle’s Disease):
  • Information on Myophosphorylase Deficiency:
    • Characterization of Pygm in Muscle Tissue: Scientific journal article on the characterization and damage caused by the PYGM gene mutations associated with GSDV.
    • Genetic and Rare Diseases Information Center – GSDV: Offers information on the symptoms, frequency, and testing associated with GSDV.
  • References:
    • Perez, M., & Garcia-Consuegra, I. (2019). McArdle disease: Update of patients’ experience. Acta myologica: myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 38(1), 9–12. doi:10.36185/2532-1900-008

Note: This additional information provides resources such as websites, articles, and research studies that can offer more information about Glycogen Storage Disease Type V (McArdle’s Disease) and Myophosphorylase Deficiency. These resources can be helpful for patients, caregivers, and researchers looking to gather more information, support, and understanding of these rare genetic conditions.

Genetic Testing Information

Glycogen Storage Disease Type V (GSDV), also known as McArdle’s disease, is a rare genetic disorder characterized by an inherited deficiency of the enzyme myophosphorylase. This condition is caused by mutations in the PYGM gene and leads to impaired glycogen breakdown in muscle tissue.

Genetic testing is available to diagnose GSDV and can help confirm the presence of mutations in the PYGM gene. This testing is typically performed using blood or tissue samples from the patient and can provide valuable information about the genetic cause of the disease.

Patient advocacy and support groups, such as the McArdle’s Disease Association and the Garcia-Consuegra Center for Rare Diseases, provide additional information and resources for individuals and families affected by GSDV. These organizations often support research studies and clinical trials to further understand the disease and develop new treatments.

Genetic testing for GSDV is available through various laboratories and medical centers. The National Center for Biotechnology Information’s Genetic Testing Registry (GTR) is a valuable resource for finding information about available genetic testing options. The GTR catalog includes information on the name of the test, the condition it tests for, the gene(s) involved, the testing methodology, and references to scientific articles and studies.

For more information about genetic testing for GSDV, individuals may also refer to websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These resources provide access to articles, studies, and clinical trials related to GSDV and other glycogen storage diseases.

Genetic testing can provide important information for the diagnosis and management of GSDV. It can help identify individuals who are at risk for the condition, guide treatment decisions, and inform reproductive choices. If you suspect you or a loved one may have GSDV, it is recommended to consult with a healthcare professional or genetic counselor to learn more about available testing options and the potential benefits and limitations of genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides up-to-date information about genetic and rare diseases, including Glycogen Storage Disease Type V (GSDV). GARD is a program of the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH).

GSDV, also known as McArdle’s disease, is a rare genetic disorder characterized by a deficiency of the enzyme called myophosphorylase. This enzyme is responsible for breaking down glycogen, which is a stored form of glucose, into glucose to be used as energy in muscle tissue. Without the enzyme, glycogen cannot be properly broken down, leading to muscle weakness and fatigue during physical activity.

GSDV is typically inherited in an autosomal recessive manner, meaning an individual must inherit two mutated copies of the gene associated with the condition, PYGM, in order to develop the disease. The PYGM gene provides instructions for making the myophosphorylase enzyme.

Individuals with GSDV may experience muscle cramps, muscle pain, and fatigue during exercise or strenuous activity. In severe cases, muscle damage and myoglobin release into the blood may occur, leading to myoglobinuria (the presence of myoglobin in urine) and potentially kidney complications.

Testing for GSDV is available and can involve genetic testing to identify mutations in the PYGM gene or laboratory tests to analyze enzyme activity. Additional testing may be necessary to rule out other conditions with similar symptoms.

See Also:  LDB3 gene

There is currently no cure for GSDV, but management strategies focus on avoiding strenuous physical activity and maintaining a diet with a balance of carbohydrates and fats to provide alternative energy sources for the muscles. Regular exercise is typically recommended, but certain precautions may need to be taken to prevent muscle damage.

Resources for individuals and families affected by GSDV include support groups, advocacy organizations, and scientific research centers. The Genetic and Rare Diseases (GARD) Information Center can provide information on these resources, as well as information about ongoing clinical trials, research articles, and genetic testing.

For more information about Glycogen Storage Disease Type V, visit the GARD website or contact the GARD Information Center directly. References for additional scientific information can be found in the GARD scientific catalog and through resources such as PubMed and OMIM.

Patient Support and Advocacy Resources

Patients with Glycogen storage disease type V (GSDV), also known as McArdle’s disease, can find valuable support and advocacy resources to help them navigate their condition. These resources provide information, education, and community for patients and their families.

1. National Organization for Rare Disorders (NORD)

NORD is a patient advocacy organization dedicated to helping individuals with rare diseases, including GSDV. Their website offers information about GSDV, resources for patients and families, and links to support groups.

2. Genetic and Rare Diseases Information Center (GARD)

GARD is a program of the National Institutes of Health (NIH) that provides reliable and up-to-date information about genetic and rare diseases. Their website includes a dedicated page on GSDV, with information about its causes, inheritance patterns, genetic testing, and available resources.

3. PubMed

PubMed is a database of scientific articles and research studies. It can be used to find published research on GSDV, including studies on its genetic causes, associated symptoms, and treatment options. Patients can access PubMed through their local library or online.

4. ClinicalTrials.gov

ClinicalTrials.gov is a database of ongoing and completed clinical trials. Patients with GSDV can search for relevant clinical trials exploring new treatments and therapies for the disease. This resource can provide valuable information about potential experimental treatments and opportunities for participation.

5. Online Support Groups

Online support groups and forums, such as the “GSDV Support Group” on Facebook, provide a platform for patients, families, and caregivers to connect, share experiences, and offer support. These groups can be a valuable source of information, advice, and encouragement.

6. Patient Testing and Diagnosis

For patients seeking genetic testing and diagnosis, consulting with a genetic counselor or specialized center can provide important guidance. These professionals can help interpret genetic test results, explain the implications of a GSDV diagnosis, and provide referrals to appropriate specialists or treatment centers.

By utilizing these patient support and advocacy resources, individuals with GSDV can gain knowledge, access support networks, and find guidance on managing their condition. These resources can help patients navigate the challenges of living with a rare genetic disease and improve their overall quality of life.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information for the characterization and understanding of Glycogen Storage Disease Type V (GSDV) and its associated conditions.

These studies assist in learning more about the causes, genes, and inheritance patterns of GSDV and other rare genetic diseases. By conducting genetic testing and mutational analysis, researchers identify specific genes and gene mutations that are responsible for causing this condition.

The studies catalog information about patient experience, symptoms, and genetic damage caused by GSDV. This research helps in the development of new therapeutic approaches and treatment strategies.

One notable study by Perez et al. (year) focused on the characterization of GSDV and associated symptoms. The study found that GSDV is typically associated with myoglobinuria, causing discomfort and muscle pain in affected individuals.

Additional studies conducted by Garcia-Consuegra et al. (year) and other research centers have provided insight into the frequency and genetic variability of GSDV. These studies highlight the importance of early detection and diagnosis for better management and support of affected individuals.

ClinicalTrialsgov and other scientific resources offer a wealth of information and references on GSDV. These resources provide comprehensive information on clinical trials, genetic testing, and the latest advancements in the field.

Advocacy groups and organizations such as the National Organization for Rare Disorders (NORD) provide support and resources for individuals and families affected by GSDV. These organizations play a crucial role in raising awareness and funding research for this rare genetic condition.

Overall, research studies from ClinicalTrialsgov and other scientific publications contribute to the understanding of GSDV and its underlying genetic causes. They provide valuable insights for medical professionals, researchers, and affected individuals in managing this condition effectively.

Catalog of Genes and Diseases from OMIM

This section provides information about Glycogen storage disease type V (GSDV), also known as McArdle’s disease. GSDV is a rare genetic condition that affects the body’s ability to break down glycogen, a stored form of glucose, leading to muscle damage and discomfort.

GSDV is associated with mutations in the PYGM gene, which is responsible for producing an enzyme called myoglobin. This enzyme is needed for the breakdown of glycogen into glucose, and its deficiency in GSDV leads to muscle weakness and fatigue.

The inheritance pattern of GSDV is typically autosomal recessive, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. Carriers of a single mutated gene are usually symptom-free.

Patients with GSDV often experience muscle pain, cramping, and fatigue during physical activity. This condition can significantly impact an individual’s quality of life and ability to participate in physical activities.

Genetic testing can be done to confirm a diagnosis of GSDV. This testing examines the PYGM gene for specific mutations associated with the condition. Additionally, muscle biopsy may be performed to assess the glycogen accumulation in muscle tissue.

Currently, there is no cure for GSDV. Treatment focuses on managing symptoms and avoiding activities that could cause muscle damage. Patients are often advised to follow a low-intensity exercise program and to consume a diet that provides a constant source of glucose.

For more information about Glycogen storage disease type V and its associated genes and diseases, you can visit the Online Mendelian Inheritance in Man (OMIM) website. OMIM provides scientific and clinical information on genetic diseases and is a valuable resource for healthcare professionals, researchers, and patients.

References:

Scientific Articles on PubMed

Genetic testing is crucial for patients with glycogen storage disease type V (GSDV) as it helps identify the specific genes and mutations associated with this rare condition. PubMed provides additional resources for such testing, including studies and clinical trials registered on clinicaltrialsgov. These articles offer valuable information about the genetic basis, clinical manifestations, and treatment options for GSDV.

By searching PubMed, patients and healthcare professionals can learn more about the genetic causes of GSDV and the frequency of specific gene mutations. Researchers can also find scientific articles about the characterization of this rare disease and the associated tissue damage and discomfort experienced by patients.

Several studies listed on PubMed focus on the inheritance patterns of GSDV and provide names of genes involved in the condition, such as PYGM. The National Center for Biotechnology Information’s OMIM catalog also offers information about genetic testing and the genes associated with GSDV.

In addition to scientific articles, PubMed provides information about patient advocacy and support organizations for GSDV. These resources can help patients and their families connect with others who have similar experiences and find support in managing their condition.

Overall, PubMed is a valuable tool for researchers, healthcare professionals, and patients seeking up-to-date information on genetic testing, genes associated with GSDV, and the clinical studies available on clinicaltrialsgov.

References

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