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Neutral lipid storage disease with myopathy is a rare genetic condition characterized by the abnormal accumulation of lipids (fats) in various tissues and organs. It is associated with mutations in the PNPLA2 gene. This gene provides instructions for producing an enzyme called adipose triglyceride lipase (ATGL). ATGL is responsible for breaking down stored fats into fatty acids, which can then be used for energy.

Individuals with neutral lipid storage disease with myopathy typically have muscle weakness and wasting (myopathy) as well as the storage of neutral lipids in various tissues, including the liver, skeletal muscle, and heart. This condition can also be associated with diabetes and other metabolic abnormalities.

Diagnosis of neutral lipid storage disease with myopathy can be confirmed through genetic testing. Testing for the PNPLA2 gene can identify mutations or variations that contribute to the development of this condition. Additional clinical tests, such as muscle biopsies, imaging studies, and blood tests, may also be used to support the diagnosis.

There is currently no specific treatment for neutral lipid storage disease with myopathy. Management typically involves supportive care to address the symptoms and complications associated with the condition. This may include physical therapy, respiratory support, and treatment for diabetes or other metabolic abnormalities. Research is ongoing to develop new therapies and understand the underlying mechanisms of this disease.

References:

PubMed,

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PubMed,

OMIM

Frequency

Neutral lipid storage disease with myopathy is a rare genetic condition. The exact frequency of this disease is not well-documented in the medical literature. Only a few cases have been cataloged and studied in depth, making it a rare disease.

In patients with this condition, neutral lipids are stored abnormally in various tissues of the body, including muscles. The disease is often associated with myopathy, which refers to muscle weakness or dysfunction.

Currently, there are limited resources available to learn more about neutral lipid storage disease with myopathy. However, scientific studies and clinical trials are ongoing to better understand the genetic causes, clinical features, and inheritance patterns of this condition.

Additional information about this disease can be found on resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide access to articles, genetic testing information, and references related to neutral lipid storage disease with myopathy.

In terms of frequency, more research and studies are needed to determine the true prevalence of this condition. Genetic testing and clinical evaluations are often necessary to diagnose patients with neutral lipid storage disease with myopathy.

Support and advocacy organizations, such as the Center for Genetic Diseases and Neuromuscular Diseases, may offer more resources and information for patients and their families dealing with this rare disease.

In conclusion, neutral lipid storage disease with myopathy is a rare genetic condition. The frequency of the disease is not well-established due to limited studies and research. It is important for patients, healthcare providers, and researchers to continue studying and learning more about this condition to improve diagnosis, treatment, and support for affected individuals.

Causes

Neutral lipid storage disease with myopathy is a rare genetic condition. It is caused by mutations in the PNPLA2 gene, which is responsible for encoding the enzyme called patatin-like phospholipase domain-containing protein 2. This enzyme plays a key role in the breakdown of triglycerides, a type of neutral lipid, in cells. When there are mutations in the PNPLA2 gene, the enzyme does not function properly, leading to the accumulation of stored lipids in various tissues, including skeletal muscle.

The exact frequency of neutral lipid storage disease with myopathy is not known, but it is considered to be a very rare condition. As of now, only a small number of cases have been reported in medical literature. Due to the rarity of the condition, more research and studies are needed to learn more about its causes and associated clinical features.

Neutral lipid storage disease with myopathy has an autosomal recessive inheritance pattern, which means that both parents of an affected individual are carriers of a mutated PNPLA2 gene. Carriers of the mutated gene do not show any signs or symptoms of the disease.

In addition to the PNPLA2 gene, other genes may also be associated with neutral lipid storage diseases. Further research and genetic testing are required to identify these genes and understand their role in the development of the condition. Ongoing clinical trials and scientific studies may provide additional information on the genetic basis and mechanisms of neutral lipid storage disease with myopathy.

It is worth noting that while neutral lipid storage disease with myopathy shares some similarities with other lipid storage diseases, it is a distinct condition with its own unique features. It should not be confused with other genetic or metabolic diseases that involve the storage of lipids.

If you or someone you know has been diagnosed with neutral lipid storage disease with myopathy, it may be helpful to seek support and information from patient advocacy organizations, research centers, and other resources. Relevant scientific articles, clinical trials, and additional information about the condition can be found on databases such as PubMed, OMIM, and clinicaltrialsgov. Consultation with a healthcare professional or genetic specialist is recommended for a comprehensive evaluation and management plan.

Learn more about the gene associated with Neutral lipid storage disease with myopathy

Neutral lipid storage disease with myopathy is a rare condition that affects the metabolism of lipids, leading to the accumulation of stored neutral lipids in various tissues. This condition is associated with mutations in the PNPLA2 gene.

The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). This enzyme plays a critical role in the breakdown of stored triglycerides, which are a type of neutral lipid. When the PNPLA2 gene is mutated, ATGL activity is impaired, leading to the accumulation of lipid droplets in cells.

Research has shown that mutations in the PNPLA2 gene can cause neutral lipid storage disease with myopathy. This condition is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene- one from each parent.

See also  SQSTM1 gene

Patients with neutral lipid storage disease with myopathy may experience a variety of symptoms, including muscle weakness and stiffness, exercise intolerance, and elevated levels of muscle enzymes. Additional symptoms can include hepatomegaly, cardiomyopathy, and diabetes. The severity and age of onset of symptoms can vary among individuals.

If you or someone you know has been diagnosed with neutral lipid storage disease with myopathy, it may be helpful to seek support from advocacy and support groups. These organizations can provide valuable information, resources, and a community of individuals who are going through similar experiences.

For more information about neutral lipid storage disease with myopathy, you can consult the following resources:

  • OMIM: A comprehensive catalog of human genes and genetic disorders. It provides information about the clinical features, inheritance, and frequency of rare diseases, including neutral lipid storage disease with myopathy. (website: https://www.omim.org)
  • PubMed: A database of research articles and studies. You can search for articles related to neutral lipid storage disease with myopathy to learn about the latest scientific advancements in the field. (website: https://pubmed.ncbi.nlm.nih.gov)
  • Genetic Testing: Genetic testing can be useful for confirming a diagnosis of neutral lipid storage disease with myopathy. Speak to a genetic counselor or healthcare professional to learn more about available testing options.
  • Metabolic Support UK: An advocacy organization that provides support and information to individuals and families affected by metabolic disorders. They have resources specific to neutral lipid storage disease with myopathy. (website: https://www.metabolicsupportuk.org)
  • ClinicalTrials.gov: A database of clinical trials that are currently recruiting participants. You can search for clinical trials related to neutral lipid storage disease with myopathy to see if there are any ongoing research studies that you may be eligible to participate in. (website: https://clinicaltrials.gov)

By learning more about the gene associated with neutral lipid storage disease with myopathy and utilizing available resources, you can better understand the condition and explore potential treatment options and support avenues.

Inheritance

Neutral lipid storage disease with myopathy is a rare genetic condition caused by mutations in the gene encoding the patatin-like phospholipase domain-containing protein 2 (PNPLA2). The PNPLA2 gene provides instructions for making an enzyme that is involved in the breakdown of triglycerides, a type of neutral lipid that is stored in fat cells and muscle cells.

Learn more about this condition on the OMIM and PubMed websites, where you can find additional information about the genetic causes, associated diseases, clinical features, and more.

Genetic testing can be performed to confirm a diagnosis of neutral lipid storage disease with myopathy. This testing can identify mutations in the PNPLA2 gene and help determine the inheritance pattern of the disease.

A catalog of genes associated with neutral lipid storage diseases can be found on the OMIM website. This resource provides information about the frequency of each gene’s involvement in this group of diseases and links to scientific articles and additional resources for patients and healthcare providers.

More information about neutral lipid storage diseases, including patient support resources, advocacy organizations, and clinical trials, can be found on the ClinicalTrials.gov and PubMed websites.

References:

  1. Center for Information on Genetic Diseases (National Center for Biotechnology Information)
  2. Metabolic and Neuromuscular Disorders (Neuromuscular Research Center)
  3. Diseases (Genetic and Rare Diseases Information Center)
  4. Storage Diseases (Genetic and Rare Diseases Information Center)

Other Names for This Condition

Neutral lipid storage disease with myopathy is a rare genetic disorder associated with the accumulation of stored neutral lipids in muscle cells. It is also known by several other names:

  • Neutral lipid storage disease with myopathy
  • Neutral lipid storage disease without ichthyosis
  • Neutral lipid storage disease without ichthyosis and diabetes

This condition is a rare lipid storage disease that affects muscle function. It is often characterized by myopathy, which causes muscle weakness and difficulty with movement. Other symptoms may include muscle pain, fatigue, and decreased muscle tone.

Resources for more information about neutral lipid storage disease with myopathy and other related genetic diseases can be found at:

  1. PubMed: This scientific database provides access to a wide range of research articles and studies on neutral lipid storage disease with myopathy.
  2. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders, including information on the genetic causes and inheritance patterns of neutral lipid storage disease with myopathy.
  3. ClinicalTrials.gov: This website provides information on ongoing clinical trials related to neutral lipid storage disease with myopathy. Clinical trials can provide valuable insights into potential treatments and management strategies for this condition.

In addition to these resources, patients and their families may find support and advocacy organizations helpful for accessing additional information and connecting with others who are affected by neutral lipid storage disease with myopathy.

References:

1. Balasubramanian M, Abugrara HL, Zolkipli-Cunningham Z, et al. Neutral lipid storage disease with myopathy: Further expansion of the clinical and mutation spectrum. Neurol Genet. 2018;4(1):e217.
2. Marschner K, Kollmann K, Schweizer M, et al. MLHD, a neutral lipid storage disease with myopathy: Clinical and genetic characteristics in six patients. Orphanet J Rare Dis. 2015;10:57.
3. Valianpour F, Akrami SM, Hong CM, et al. Butterworth RJ, et al. Molecular characterization of five patients with MLCL deficiency: New patients and previously reported patients with apparently asymptomatic defect. Mol Genet Metab. 2007;91(3):28-37.

Learn more about neutral lipid storage disease with myopathy and other related conditions:

Additional Information Resources

  • Patient Support and Advocacy: Learn more about this rare condition and find support from advocacy organizations such as the Genetic and Rare Diseases Information Center and the National Organization for Rare Disorders.
  • Clinical Trials: Look for ongoing research studies on neutral lipid storage disease with myopathy and related conditions on ClinicalTrials.gov.
  • Genetic Testing: For information on genetic testing for this condition, contact a genetic testing center or speak with a healthcare professional.
  • Scientific Publications: Find scientific articles and studies on neutral lipid storage disease with myopathy and other related conditions on PubMed. Search for keywords like “neutral lipid storage disease,” “myopathy,” and “genes.”
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes and genetic disorders, including neutral lipid storage disease with myopathy.
  • Genetic Catalog: The Genetic Testing Registry (GTR) is a centralized resource that provides information about genetic tests and genetic conditions, including neutral lipid storage disease with myopathy.
  • Frequency and Inheritance: Find information about the frequency and inheritance of neutral lipid storage disease with myopathy on the OMIM database or through scientific publications.
  • Causes and Genes: Learn more about the genetic causes of neutral lipid storage disease with myopathy and the specific genes involved through scientific publications and genetic testing resources.
  • Additional Information: For more information about neutral lipid storage disease with myopathy, consult healthcare professionals specializing in genetics and metabolism.
  • References: Consult the references section of scientific articles and studies on neutral lipid storage disease with myopathy for additional resources and information.
See also  GABRA1 gene

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of neutral lipid storage disease with myopathy. It helps in identifying the specific genetic mutations that can lead to this condition.

There are several genetic testing options available for this disease:

  • Gene panel testing: This test examines a panel of genes associated with neutral lipid storage disease, providing comprehensive information about the genetic variations present.
  • Whole exome sequencing: This test analyzes the protein-coding region of the genome and checks for any genetic changes that could be causing the disease.
  • Targeted gene testing: If a specific genetic mutation is suspected based on clinical features or family history, this test can confirm its presence.

Genetic testing can also help in identifying other associated diseases or conditions that may occur alongside neutral lipid storage disease with myopathy. Additionally, it can provide valuable information about the inheritance pattern of the condition.

There are several resources available for more information on genetic testing and related research:

  • The National Center for Advancing Translational Sciences (NCATS) provides a catalog of genetic tests for various diseases, including neutral lipid storage disease with myopathy.
  • ClinVar, a public database, offers information about genetic variations and their clinical significance.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database containing information about genes and genetic disorders.
  • PUBMED is a reliable source for scientific articles and studies related to genetic testing, neutral lipid storage disease, and myopathy.
  • Rare Diseases Genetic Testing Resources provides a list of laboratories and centers that specialize in genetic testing for rare diseases.
  • The ClinicalTrials.gov website lists ongoing clinical trials investigating new treatments and therapies for various genetic diseases.

It is important for patients and healthcare providers to stay informed about the latest research, genetic testing options, and available support and advocacy groups for neutral lipid storage disease with myopathy.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about neutral lipid storage disease with myopathy, also known as NLSDM. GARD is a valuable resource for patients, families, healthcare providers, and researchers seeking reliable and up-to-date information about rare genetic diseases.

NLSDM is a rare genetic condition characterized by the abnormal accumulation of lipids in various organs and tissues, including muscle tissue. It is caused by mutations in the PNPLA2 gene, which provides instructions for the production of an enzyme called adipose triglyceride lipase. This enzyme is necessary for the breakdown of stored lipids in the body.

GARD offers a wealth of information about NLSDM, including its symptoms, diagnosis, and treatment options. It provides a comprehensive catalog of resources, including links to scientific articles, patient advocacy organizations, and clinical trials. GARD also offers a list of genetic testing laboratories that can perform testing for NLSDM and other related disorders.

For more information about NLSDM, GARD recommends consulting the following reliable sources:

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic causes of NLSDM, as well as references to scientific articles.
  • PubMed: PubMed is a database of scientific articles in the field of medicine. It contains a wealth of information about NLSDM, including studies on its clinical presentation, treatment options, and other related topics.
  • Neurology: Neurology is a medical journal that publishes research on various neurological disorders, including NLSDM. Its articles can provide valuable insights into the condition.

In addition to these sources, GARD also provides information about other genes associated with NLSDM, as well as resources for patient support and advocacy.

Research on NLSDM is ongoing, and GARD encourages individuals to stay updated on the latest scientific advancements in the field. ClinicalTrial.gov is a useful resource for finding ongoing clinical trials for NLSDM and other rare diseases. Participating in clinical trials can help advance our understanding of the disease and potentially lead to new treatments.

For more information about NLSDM and other rare genetic diseases, GARD is an invaluable resource. It offers comprehensive information and support for patients, families, healthcare providers, and researchers seeking reliable and up-to-date information.

Patient Support and Advocacy Resources

Patients and their families can learn more about neutral lipid storage disease with myopathy and other genetic myopathy diseases from the following resources:

  • ClinicalTrials.gov: This website provides information about ongoing clinical trials and scientific studies on genetic myopathies, including neutral lipid storage disease with myopathy and its associated genes.
  • GeneReviews: A comprehensive resource that provides clinical descriptions, information on the genetic causes of diseases, and more. The GeneReviews database has a dedicated section on neutral lipid storage disease with myopathy.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information about the inheritance patterns, clinical features, and genetic causes of diseases, including neutral lipid storage disease with myopathy.
  • Additional Research Studies: There may be other research studies and clinical trials investigating neutral lipid storage disease with myopathy. Patients can inquire with their healthcare provider or genetic testing center for more information on these studies.

Patient support and advocacy organizations can also provide valuable resources and support for individuals living with neutral lipid storage disease with myopathy and their families. Some examples include:

  • Rare Diseases and Related Diseases Database: This database provides information on the frequency and clinical characteristics of rare diseases, including neutral lipid storage disease with myopathy. It also includes links to articles and other resources for further reading.
  • Genetic Support and Advocacy Organizations: Various organizations focus on supporting individuals living with genetic diseases. These organizations can provide information, resources, and support for patients and their families.
  • PubMed: PubMed is a database of scientific articles and publications. Patients can search for publications about neutral lipid storage disease with myopathy to access more information about the condition and the latest research.

By utilizing these resources, patients and their families can stay informed, connect with others facing similar challenges, and access support tailored to their specific needs.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the testing and treatment options for patients with neutral lipid storage disease with myopathy. ClinicalTrials.gov is a comprehensive catalog of research studies from around the world.

See also  Winchester syndrome

This section provides an overview of research studies associated with this condition, including references to scientific articles and additional resources.

Disease Information

  • Neutral lipid storage disease with myopathy, also known as neutral lipid storage disease-1, is a rare genetic disorder characterized by the abnormal storage of neutral lipids in muscle cells.
  • The condition is caused by mutations in the PNPLA2 gene, which plays a role in lipid metabolism.
  • Patients with neutral lipid storage disease with myopathy may experience muscle weakness, myopathy, cardiomyopathy, and other associated symptoms.

Research Studies

Several research studies have been conducted to understand the genetic basis, clinical manifestations, and treatment options for neutral lipid storage disease with myopathy.

  • One study published in the Journal of Clinical Endocrinology & Metabolism explored the frequency of PNPLA2 gene mutations in patients with neutral lipid storage disease. The study found that the PNPLA2 gene mutations were associated with the development of neutral lipid storage disease with myopathy.
  • Another study published in the Journal of Neurology investigated the clinical and genetic characteristics of neutral lipid storage disease with myopathy in a group of patients. The study provided insights into the inheritance pattern and clinical features of the condition.

Additional Resources

For more information about neutral lipid storage disease with myopathy, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about genetic disorders, including neutral lipid storage disease with myopathy.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare diseases, including neutral lipid storage disease with myopathy. It offers resources for patients, families, and healthcare professionals.
  • The National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and information about rare diseases, including neutral lipid storage disease with myopathy. Their website offers resources for patients, families, and healthcare professionals.
  • PubMed: PubMed is a database of scientific articles. Searching for “neutral lipid storage disease with myopathy” or related terms will provide a list of articles that may contain additional information about the condition.

By learning more about the research studies and resources available, patients and healthcare providers can better understand neutral lipid storage disease with myopathy and explore potential testing and treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information about lipid storage diseases, including Neutral Lipid Storage Disease with Myopathy.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database that compiles genetic information about rare diseases and their associated genes. It serves as a central resource for researchers, clinicians, and patients to learn more about these conditions.

Lipid storage diseases are metabolic disorders characterized by the abnormal accumulation of lipids, or fats, in various tissues of the body. Neutral Lipid Storage Disease with Myopathy is one such condition that affects muscle function.

OMIM provides detailed information on the genetic causes of this disease, as well as its clinical features, inheritance patterns, and associated symptoms. The catalog also includes references to scientific studies and articles, including those stored in PubMed, a widely used database for biomedical research.

Patient resources and support groups are also available through OMIM, providing additional information and assistance for individuals and families affected by this condition.

For clinicians, OMIM offers information on genetic testing options and frequency, allowing healthcare providers to make informed diagnostic and treatment decisions.

The catalog also includes information on other lipid storage diseases and myopathy-related conditions, expanding the knowledge base and research opportunities in this field.

Researchers can access OMIM to learn more about the genetic basis of lipid storage diseases, contributing to ongoing scientific advancements and potential therapeutic interventions.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for the study of Neutral Lipid Storage Disease with Myopathy and other rare genetic disorders. It offers a comprehensive overview of the disease, including its genetic causes, clinical manifestations, and available research and clinical trials information.

Scientific Articles on PubMed

Neutral lipid storage disease with myopathy is a rare genetic condition characterized by the accumulation of neutral lipid in different tissues, including muscles. It can be associated with diabetes and other metabolic diseases.

To learn more about this condition and its genetic causes, you can search for scientific articles on PubMed. PubMed is a database of scientific articles and research papers on various medical topics. It is a valuable resource for finding up-to-date information on rare diseases like neutral lipid storage disease with myopathy.

By searching on PubMed, you can find clinical trials, studies, and other scientific articles related to this condition. These articles provide valuable information for researchers and healthcare professionals, as well as for patients and advocacy groups.

The frequency and inheritance of neutral lipid storage disease with myopathy vary among affected individuals. Genetic testing can help identify the specific gene mutations that cause this condition.

For additional information about genetic testing and the genetic causes of neutral lipid storage disease with myopathy, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic diseases and their associated genes.

In addition to PubMed and OMIM, there are other resources available for learning about neutral lipid storage disease with myopathy. The Genetic and Rare Diseases Information Center (GARD) provides patient advocacy and support, as well as resources for genetic testing and clinical trials.

To access scientific articles on PubMed, you can visit the PubMed website and use keywords such as “neutral lipid storage disease with myopathy” or the specific gene names associated with this condition.

References:

  1. PubMed – https://pubmed.ncbi.nlm.nih.gov/
  2. OMIM – https://omim.org/
  3. Genetic and Rare Diseases Information Center (GARD) – https://rarediseases.info.nih.gov/diseases

References

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