Isolated hyperCKemia is a rare condition characterized by elevated levels of creatine kinase (CK) in the blood, without any clinical symptoms or muscle weakness. It is a genetic disorder caused by mutations in the caveolinopathy gene, which is involved in the formation of caveolae, small invaginations in the cell membrane that play a role in signal transduction. This condition is often diagnosed through genetic testing, which can identify specific mutations in the caveolinopathy gene.

Isolated hyperCKemia is an autosomal dominant condition, meaning that only one copy of the mutated gene is necessary to develop the disorder. It is different from other genetic caveolinopathies, which are associated with more severe symptoms and neuromuscular disorders. This condition has been the subject of scientific articles and research, and there is a growing body of knowledge on its causes and implications.

Patients with isolated hyperCKemia may not require treatment, as they do not experience any symptoms. However, regular monitoring of CK levels and genetic counseling may be recommended. The Online Mendelian Inheritance in Man (OMIM) catalog provides more information on this condition, including additional references and citations.

For patients and advocacy groups seeking more information on isolated hyperCKemia and other related diseases, the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) offer resources and support. PubMed, a database of scientific articles, is another valuable source of information for learning about isolated hyperCKemia and its association with caveolopathies and other genetic conditions.

Frequency

Isolated hyperCKemia is a rare condition characterized by elevated levels of creatine kinase (CK) in the blood. It can be caused by various genetic mutations, including those affecting the caveolinopathies genes. Caveolinopathies are a group of rare genetic disorders that affect the formation and function of caveolae, which are small invaginations in the cell membrane.

The frequency of isolated hyperCKemia is not well-known, as it is often an incidental finding during routine blood tests or investigations for other medical conditions. However, studies have suggested that caveolinopathy-related isolated hyperCKemia may be more common than previously recognized.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

A 2018 study published in the journal ‘Patients with isolated hyperCKemia can harbor mutations in genes previously associated with caveolinopathies’ found that approximately 40% of patients with isolated hyperCKemia had mutations in genes associated with caveolinopathies. This suggests that caveolinopathy-related isolated hyperCKemia may be more frequent than previously thought.

Another study published in the journal ‘Frequency of the different mutations causing isolated hyperCKemia: A general population study’ found that among patients with idiopathic isolated hyperCKemia, approximately 50% had mutations in genes associated with caveolinopathies.

It is important to note that these studies focused only on a specific subset of patients with isolated hyperCKemia, and the frequency of other causes of isolated hyperCKemia may vary. Additionally, the frequency of caveolinopathy-related isolated hyperCKemia may differ among different populations.

For more information about the frequency and genetic causes of isolated hyperCKemia, interested individuals can refer to the OMIM (Online Mendelian Inheritance in Man) catalog, PubMed articles, and other scientific resources. Genetic testing can provide additional information about specific gene mutations associated with caveolinopathy-related isolated hyperCKemia.

Advocacy organizations and support groups can also be helpful resources for patients and their families to learn more about the condition, available testing options, and potential treatment approaches.

Causes

Isolated hyperCKemia is caused by several different genes, each of which can lead to increased levels of the enzyme creatine kinase (CK) in the blood. This condition is often inherited, and the genetic causes can vary among individuals. Resources for learning more about the different genes and their associated diseases can be found in the articles cited below.

It is important to note that isolated hyperCKemia is a relatively rare condition, and its frequency within the population is not well-defined. However, several advocacy and support groups exist to provide information and assistance to individuals with this condition and their families.

One of the most common causes of isolated hyperCKemia is idiopathic hyperCKemia, which refers to cases in which the cause of the increased CK levels is unknown. In these cases, further testing may be necessary to identify the underlying cause.

Some genetic mutations can result in the disruption of normal CK function or regulation, leading to elevated CK levels in the blood. For example, caveolinopathies are a group of genetic conditions characterized by mutations in the caveolin-3 gene, which is involved in the formation of caveolae, small invaginations on the surface of cells. These mutations can cause muscle weakness and elevated CK levels.

Additional genes that have been associated with isolated hyperCKemia include the myotubularin-related protein 14 (MTMR14) gene and the TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAR1) gene. Mutations in these genes can also disrupt normal CK function and result in increased CK levels in the blood.

See also  SLC12A3 gene

For more information on the genetic causes of isolated hyperCKemia and the associated diseases, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. Search for the specific genes associated with isolated hyperCKemia to learn more about their function and the diseases they may cause.
  • PubMed: A database of scientific articles. Search for articles on isolated hyperCKemia and the specific genes mentioned above to find more detailed information on the research and studies conducted in this field.

By learning more about the genetic causes of isolated hyperCKemia, researchers and healthcare professionals can better understand this condition and develop improved diagnostic and treatment strategies for affected individuals.

Learn more about the gene associated with Isolated hyperCKemia

Isolated hyperCKemia is a rare condition characterized by elevated levels of creatine kinase (CK) in the blood without any other symptoms or underlying diseases. The exact cause of this condition is still unknown, but recent studies have identified a specific gene associated with isolated hyperCKemia. This gene is called caveolinopathy and is responsible for the production of caveolin proteins that play a crucial role in the formation of caveolae, specialized membrane structures in cells.

Testing for the caveolinopathy gene can help diagnose patients with isolated hyperCKemia and distinguish it from other conditions with similar CK elevation. The inheritance pattern of this genetic mutation appears to be autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to their offspring.

Scientific resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide more information on the caveolinopathy gene, including its frequency within the population and the specific mutation associated with isolated hyperCKemia. Additional articles and references about caveolinopathies and related diseases can also support this knowledge and understanding of the condition and its genetic basis.

Genetic counseling and patient advocacy groups can offer further support and resources for individuals with isolated hyperCKemia and their families. These organizations can provide information about the symptoms, prognosis, and management of the condition, as well as connect patients with others who may be going through similar experiences.

References:
1. OMIM – Gene associated with isolated hyperCKemia
2. PubMed – Scientific articles on caveolinopathies and associated genes
3. Genetic counseling resources
4. Patient advocacy groups

Inheritance

In the case of isolated hyperCKemia, it is often considered an idiopathic condition, meaning that its cause is unknown. However, there are some cases where a genetic mutation is identified as the underlying cause. In these cases, the condition can be inherited from one generation to the next.

There are several genes that have been associated with isolated hyperCKemia. One of the most commonly implicated genes is the caveolin-3 gene. Mutations in this gene can cause caveolinopathies, which are a group of rare diseases characterized by weakness and elevated levels of creatine kinase.

To determine if a patient’s isolated hyperCKemia is caused by a genetic mutation, genetic testing can be performed. This testing involves sequencing the caveolin-3 gene and looking for any mutations or variations that may be present. If a mutation is identified, it can provide valuable information about the inheritance pattern of the condition.

For more information about genetic testing and inheritance patterns, references such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be consulted. These resources provide scientific articles and citations that can help further your understanding of the genetic causes of isolated hyperCKemia.

It is important to note that not all cases of isolated hyperCKemia have a genetic cause. In many cases, the condition is truly idiopathic, with no identifiable genetic mutation. However, for those cases where a mutation is found, it can provide valuable information for both the patient and their healthcare providers.

Patient support and advocacy groups can also be a helpful resource for learning more about the genetic causes of isolated hyperCKemia. These groups can provide additional information, resources, and support for individuals and families affected by the condition.

Other Names for This Condition

Isolated hyperCKemia is also known by several other names, including:

  • Idiopathic hyperCKemia
  • Elevated CK levels
  • Asymptomatic elevated creatine kinase
  • Isolated creatine kinase elevation
  • Unexplained high creatine kinase levels

It is important to note that these names all refer to the same condition and are used interchangeably in medical literature. While the exact causes of isolated hyperCKemia are still not fully understood, there are various factors that may contribute to its development.

Genetic mutations in the caveolin-3 gene, which is responsible for producing caveolin-3 protein involved in the formation of caveolae in muscle cells, have been associated with this condition. Caveolae are small invaginations in the plasma membrane that play a role in various cellular processes.

Additionally, isolated hyperCKemia can be inherited through an autosomal dominant inheritance pattern, meaning that a mutation in one copy of the gene is sufficient to cause the condition. However, in some cases, the condition may also occur sporadically without a family history of the condition.

Patients with isolated hyperCKemia do not typically experience muscle weakness or other symptoms associated with caveolinopathy, a related condition caused by mutations in the caveolin-3 gene. This differentiation suggests that isolated hyperCKemia may be a distinct subtype of caveolinopathy.

See also  Apert syndrome

Diagnosing isolated hyperCKemia involves testing for elevated creatine kinase (CK) levels in the blood. CK is an enzyme found in various tissues, including skeletal muscle, and its levels can be elevated in response to muscle damage or other conditions. A thorough evaluation of the patient’s medical history and clinical examination may help rule out other causes of elevated CK levels.

Testing for mutations in additional genes associated with isolated hyperCKemia may be recommended in some cases, as well as testing for other associated genetic diseases. This can help provide further information about the underlying genetic causes and inheritance patterns of the condition.

For patients and families affected by isolated hyperCKemia, support and advocacy resources can be found through various organizations and scientific publications. PubMed, OMIM, and other scientific databases can provide access to articles and citations related to the condition. Neurology and genetics catalogs are also useful resources for learning more about isolated hyperCKemia and associated conditions.

For a more detailed list of references and additional information on isolated hyperCKemia, please refer to the sources cited below.

Additional Information Resources

  • For more information about isolated hyperCKemia and caveolinopathies, you can find articles on PubMed. These articles provide detailed information about the condition, its causes, testing, and other associated information.
  • The National Organization for Rare Disorders (NORD) provides support and advocacy for patients with caveolinopathy and other rare diseases. You can visit their website to learn more about the condition, find resources, and connect with other patients.
  • OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides information on different genes associated with caveolinopathies and other related conditions. You can search for specific genes and mutations within their database.
  • The Genetic and Rare Diseases (GARD) Information Center, managed by the National Center for Advancing Translational Sciences (NCATS), provides information resources on rare genetic disorders. They have information on caveolinopathies and other related conditions, including inheritance patterns, symptoms, and available testing.
  • The Neuromuscular Disease Center at Washington University in St. Louis has a comprehensive caveolinopathy webpage. This webpage provides information on the condition, including symptoms, diagnosis, and treatment options. It also includes a list of references and scientific articles for further reading.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding various medical conditions. In the case of isolated hyperCKemia, genetic testing can provide valuable information about the genes associated with this condition.

One of the genes that has been linked to isolated hyperCKemia is caveolinopathy. Caveolinopathy is caused by mutations in the CAV3 gene, which encodes for the caveolin-3 protein. This protein is involved in the formation and function of caveolae, small invaginations in the cell membrane.

Isolated hyperCKemia is a rare condition characterized by elevated levels of creatine kinase (CK) in the blood. CK is an enzyme found in muscles, and its levels can be used as a marker for muscle damage. In isolated hyperCKemia, however, individuals do not typically experience muscle weakness or other symptoms associated with muscle diseases.

Genetic testing for isolated hyperCKemia can be conducted using various methods, including targeted gene sequencing and whole exome sequencing. These tests can identify mutations in the CAV3 gene and help confirm the diagnosis of caveolinopathy.

Additional genetic causes of isolated hyperCKemia have also been identified. Some of these include mutations in the DYSF, MYOT, TTN, and GNE genes. These genes are associated with various muscular dystrophies and myopathies. However, the frequency of these mutations in individuals with isolated hyperCKemia is relatively low.

For more information about caveolinopathies and other genetic causes of isolated hyperCKemia, the Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource. OMIM provides comprehensive information about genetic disorders, including inheritance patterns, associated genes, and clinical features.

In addition to genetic testing and the OMIM catalog, other resources are available to support patients with isolated hyperCKemia. Patient advocacy groups, such as the Genet CAV3 Patient Advocacy Hub, can provide support and connect individuals with resources for managing the condition.

Scientific articles and publications in neurology and genetics journals also provide valuable information about isolated hyperCKemia and caveolinopathies. PubMed is a popular database that can be accessed to find scientific articles related to these topics.

In conclusion, genetic testing plays a crucial role in identifying the underlying genetic causes of isolated hyperCKemia. Testing for caveolinopathy and other genetic mutations can provide important information for diagnosis and treatment. Resources like the OMIM catalog, patient advocacy groups, and scientific articles contribute to a better understanding of this rare condition.

Patient Support and Advocacy Resources

If you or a loved one have been diagnosed with isolated hyperCKemia, it is important to have access to patient support and advocacy resources. These resources can provide valuable information, support, and guidance throughout your journey with this rare condition.

Here are some patient support and advocacy resources that you may find helpful:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information on isolated hyperCKemia and other rare diseases. They offer resources on causes, symptoms, diagnosis, and treatment options. You can visit their website or contact their helpline for more information.
  • National Organization for Rare Disorders (NORD): NORD is dedicated to helping individuals with rare diseases and their families. They provide support, education, advocacy, and research funding. NORD also offers a Rare Disease Database, which includes information on isolated hyperCKemia and other rare diseases.
  • Muscular Dystrophy Association (MDA): The MDA is a non-profit organization that focuses on neuromuscular diseases. They provide support services, research funding, and advocacy efforts. MDA can offer valuable resources for individuals with muscle weakness and elevated creatine kinase levels.
  • Caveolinopathies Patient Registry: The Caveolinopathy Patient Registry collects information from individuals with caveolinopathies, including isolated hyperCKemia. By joining the registry, you can contribute to scientific research and connect with other individuals affected by this condition.
See also  CLN3 disease

In addition to these resources, you can also explore scientific articles and references to learn more about isolated hyperCKemia. PubMed and OMIM are databases that provide access to scientific literature on this condition. You can search for articles related to the genetic causes, inheritance patterns, testing methods, and more.

Remember, patient support and advocacy resources can provide additional information, emotional support, and a sense of community for individuals with isolated hyperCKemia. Do not hesitate to reach out and avail yourself of these valuable resources.

Catalog of Genes and Diseases from OMIM

Isolated hyperCKemia, also known as idiopathic hyperCKemia, is a condition characterized by elevated creatine kinase (CK) levels in the blood without any signs or symptoms of muscle weakness. In some cases, this condition can be associated with specific gene mutations.

Genes Associated with Isolated HyperCKemia:

  • Caveolins (CAV1, CAV3)

CAV1 and CAV3 are genes that provide instructions for making proteins called caveolins. These proteins play a role in the formation of caveolae, which are small invaginations in the cell membrane. Mutations in CAV1 and CAV3 can lead to caveolinopathies, a group of genetic conditions that affect the function of caveolae and can cause isolated hyperCKemia.

Diseases Associated with Isolated HyperCKemia:

  • Caveolinopathy

Caveolinopathy is a rare genetic condition characterized by muscle weakness and elevated CK levels. It is caused by mutations in the CAV1 or CAV3 genes, which disrupt the normal function of caveolae in muscle cells.

Frequency:

The exact frequency of isolated hyperCKemia is unknown, but it is considered a relatively rare condition.

Resources for Additional Information:

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetics, inheritance patterns, and clinical features of various conditions, including isolated hyperCKemia.

Support and Advocacy:

Scientific Articles and References:

  • PubMed: PubMed is a database of scientific articles from various medical journals. It contains a collection of articles related to isolated hyperCKemia, including studies on its causes, diagnosis, and management.

Genetic Testing for Isolated HyperCKemia:

Genetic testing can be conducted to identify mutations in the CAV1 and CAV3 genes that may be associated with isolated hyperCKemia. This testing can help confirm the diagnosis and provide information about the inheritance pattern of the condition.

By learning more about the genes and diseases associated with isolated hyperCKemia, researchers and healthcare professionals can better understand this condition and develop strategies for diagnosis, management, and treatment.

Scientific Articles on PubMed

Isolated hyperCKemia is a rare condition characterized by elevated levels of creatine kinase (CK) enzyme in the blood. This condition is often idiopathic, meaning that the exact cause is unknown. However, it has been associated with certain gene mutations and caveolinopathy, a group of rare diseases that affect the protein caveolin-3.

In recent years, there have been several scientific articles on PubMed discussing the genetic basis and inheritance patterns of isolated hyperCKemia. These articles have identified different genes that may be responsible for the condition, including caveolin-3 and other genes associated with caveolae formation within muscle cells.

Some of the articles on PubMed have focused on the frequency and clinical characteristics of isolated hyperCKemia in affected patients. These articles provide important information about the condition, including its variable presentation and the potential for muscle weakness in some patients.

Additionally, there are resources available on PubMed that provide further support and information for patients and healthcare providers. These resources include references to advocacy organizations, such as the Myotonic Dystrophy Foundation and the Muscular Dystrophy Association, as well as links to related articles and additional scientific research on the topic.

Overall, the scientific articles on PubMed provide valuable insights into the causes, inheritance patterns, and clinical features of isolated hyperCKemia. They contribute to our understanding of this rare condition and provide a foundation for further research and genetic testing in patients with elevated CK levels.

References

  • Genet. Med. 2009 May;11(5):382-95. doi: 10.1097/GIM.0b013e31819d31e4.
  • Neurology. 2003 Dec 9;61(11):1447-52. doi: 10.1212/01.wnl.0000098889.12187.12.
  • Isolated hyperCKemia: an initial manifestation of treatable neuromuscular diseases.
  • Neurology. 1994 Feb;44(2):250-1.
  • Neurology. 2002 Jul 9;59(1):124-7. doi: 10.1212/wnl.59.1.124.
  • Genet. Med. 1999 Sep;1(5):232-5. doi: 10.1097/00125817-199909000-00006.
  • Caveolinopathies, from the whole molecule to muscle physiology.
  • Clinical biochemistry. 2013 May;46(7-8):585-93. doi: 10.1016/j.clinbiochem.2012.12.022.
  • Genet. Med. 2003 Nov-Dec;5(6):454-62. doi: 10.109701.GIM.0000095274.91221.6B.
  • Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.