Early-onset isolated dystonia is a rare neurological condition characterized by involuntary muscle contractions, causing twisting and repetitive movements. It typically begins in childhood or adolescence, and may involve isolated body parts or affect the entire body. The symptoms of early-onset isolated dystonia vary widely, and can range from mild to severe, significantly impacting a person’s daily function and quality of life.
The exact cause of early-onset isolated dystonia is not well understood. However, research suggests that genetic factors play a role. Mutations in certain genes, such as the TOR1A gene, have been identified in some individuals with the condition. Inheritance patterns of early-onset isolated dystonia can be complex, with both autosomal dominant and recessive inheritance reported in different families.
Diagnosing early-onset isolated dystonia can be challenging, as the condition is often misdiagnosed or unrecognized. A thorough evaluation by a healthcare professional specializing in movement disorders is necessary to accurately diagnose and classify the type of dystonia a person is experiencing. This may involve medical history review, physical examination, and genetic testing to identify specific gene variants associated with early-onset isolated dystonia.
Treatment options for early-onset isolated dystonia are limited, but there are various strategies available to help manage symptoms. This may include medications to reduce muscle spasms and improve movement, physical therapy to enhance mobility and flexibility, and botulinum toxin injections to temporarily paralyze affected muscles. In some cases, deep brain stimulation surgery may be considered for severe and resistant cases of early-onset isolated dystonia.
Living with early-onset isolated dystonia can be challenging, but support and resources are available for individuals and their families. Various advocacy organizations and online communities provide additional information, research articles, and support networks for those affected by dystonia. It is important for individuals with early-onset isolated dystonia to learn about their condition, seek appropriate medical care, and connect with others who share similar experiences.
Frequency
Dystonia is a rare condition characterized by sustained or intermittent muscle contractions, causing abnormal movements and postures. Early-onset isolated dystonia is a subtype of dystonia that usually presents in childhood or adolescence, although it can also occur in adults. It is called “isolated” because it is not associated with other neurological symptoms.
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The frequency of early-onset isolated dystonia varies depending on the population studied and the specific genetic variants tested for. According to the Dystonia Advocacy and Research Foundation, the condition is estimated to affect about 1 in 30,000 to 1 in 50,000 people.
Genetic testing has identified several genes associated with early-onset isolated dystonia, including TOR1A, THAP1, and GNAL. These genes play a role in the function of dopamine-producing neurons in the basal ganglia, a region of the brain involved in movement control. Variants in these genes can disrupt the normal functioning of the basal ganglia, leading to the development of dystonia.
Additional testing for these genetic variants can be done to confirm a diagnosis of early-onset isolated dystonia. The Dystonia Advocacy and Research Foundation provides information and resources for individuals seeking genetic testing and counseling.
Classification of early-onset isolated dystonia can be complicated due to the wide range of symptoms and genetic causes. The Dystonia Advocacy and Research Foundation has developed a classification system based on the age of onset and the body parts affected. This classification system can help guide treatment decisions and provide valuable information for research studies.
Research articles and scientific resources on early-onset isolated dystonia can be found in the PubMed and OMIM databases, as well as other scientific publications. Some key articles on the topic include “Early-onset torsina-linked dystonia” by Ozelius et al. (2000) and “Advocacy groups, genetic testing, and the classification of limb-girdle muscular dystrophies” by Jankovic (2015). These articles provide important information about the genetic causes, clinical features, and inheritance patterns of early-onset isolated dystonia.
In summary, early-onset isolated dystonia is a rare condition characterized by abnormal muscle contractions and postures. It is usually caused by genetic variants in genes involved in movement control. The frequency of early-onset isolated dystonia is estimated to be around 1 in 30,000 to 1 in 50,000 people. Genetic testing and counseling are available for individuals affected by this condition, and advocacy groups provide valuable resources and support for patients and their families.
Causes
Early-onset isolated dystonia is a rare condition characterized by the onset of dystonic symptoms in childhood or adolescence. The exact cause of this condition is not yet fully understood, but research suggests that it may be caused by a combination of genetic and environmental factors.
Genetic testing has identified several genes that are associated with early-onset isolated dystonia, including the TOR1A gene. Variants in this gene, also known as the DYT1 gene, are usually inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the variant from either parent to develop the condition.
Other genes that have been associated with early-onset isolated dystonia include THAP1, CIZ1, and ANO3. These genes are also inherited in an autosomal dominant manner and are believed to play a role in the development of dystonia.
In addition to genetic factors, some cases of early-onset isolated dystonia may be caused by environmental factors. For example, certain medications, infections, or traumatic events may trigger the onset of symptoms in individuals who are genetically predisposed to the condition.
It is important to note that early-onset isolated dystonia is different from other types of dystonias, which may be associated with other underlying diseases or conditions. For example, generalized dystonia may be associated with variants in the TorsinA gene (TOR1A) and is often present as a symptom of other neurological diseases.
If you or a loved one have been diagnosed with early-onset isolated dystonia, it is recommended to seek support from advocacy organizations, such as the Dystonia Medical Research Foundation (DMRF), to learn more about the causes, inheritance patterns, and available resources. These organizations can provide additional information and resources about genetic testing, classification of dystonias, and more.
For more scientific information on the causes of early-onset isolated dystonia, you can refer to the articles listed in the PubMed database or the OMIM catalog. Some relevant articles include:
- Jankovic, J. (2005). The dystonias. Continuum (Minneapolis, Minn.), 11(2), 108-124. [PubMed]
- Neurobiol, Dystonia: classification, phenotypes, and differential diagnosis. (2011). Neurobiology of Disease, 42(1), 127-135. [PubMed]
- Torsina and early-onset isolated dystonia. (2005). The New England Journal of Medicine, 353(8), 868-870. [PubMed]
These articles provide information on the underlying genetic causes and inheritance patterns of early-onset isolated dystonia, as well as the frequency of associated symptoms and other diseases.
For more information and patient resources on early-onset isolated dystonia, you can visit the Dystonia Medical Research Foundation (DMRF) website or refer to the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic disorders.
Learn more about the gene associated with Early-onset isolated dystonia
Dystonia is a condition characterized by involuntary muscle contractions that cause repetitive twisting movements and abnormal postures. Early-onset isolated dystonia refers to a form of dystonia that typically appears in childhood or adolescence and is limited to one or a few parts of the body.
Research has identified a gene called TOR1A, which is associated with early-onset isolated dystonia. Variants in the TOR1A gene can lead to the production of a protein called torsinA, which plays a role in brain function and the regulation of muscle movement. Mutations in the TOR1A gene can disrupt the normal function of torsinA, leading to the development of dystonia symptoms.
Testing for variants in the TOR1A gene can be helpful in confirming a diagnosis of early-onset isolated dystonia. Genetic testing can also be used to determine if other genetic mutations are present that may be causing the dystonia symptoms.
Additional scientific resources and support for early-onset isolated dystonia are available from various advocacy and research center organizations. These resources can provide information about the condition, its causes, inheritance patterns, and available treatments. They can also offer support and provide access to clinical trials, if applicable.
Individuals interested in learning more about early-onset isolated dystonia and the associated gene can find further information from scientific articles and reviews published in reputable journals. PubMed and OMIM are databases that provide access to a wide range of scientific literature on this topic. These resources can help individuals stay informed about the latest research and advancements in the field of dystonia genetics.
References:
- Charlesworth, G., Bhatia, K. P., & Wood, N. W. (2013). The genetics of dystonias. Pract Neurol, 13(6), 344-350. doi: 10.1136/practneurol-2013-000653
- Ozelius, L. J., Jankovic, J., & Brin, M. F. (2002). Genetics of dystonia: overview and recommendations for genetic testing. Mov Disord, 17 Suppl 3, S110-20. doi: 10.1002/mds.10178
For more information:
- The Dystonia Society: A UK-based organization providing information, support, and resources for individuals with dystonia. Visit their website at www.dystonia.org.uk.
- Dystonia Medical Research Foundation (DMRF): A US-based organization dedicated to advancing research and providing support for individuals with dystonia. Visit their website at www.dystonia-foundation.org.
Inheritance
Early-onset isolated dystonia can be inherited in different ways, and the specific mode of inheritance depends on the cause of the condition.
Genetic mutations in certain genes have been identified as the underlying cause for early-onset isolated dystonia. One of the most well-known genes associated with this condition is the TOR1A gene, which encodes the torsinA protein. Mutations in the TOR1A gene are responsible for approximately half of all cases of early-onset isolated dystonia.
The inheritance pattern for early-onset isolated dystonia caused by TOR1A mutations is autosomal dominant. This means that an affected person has a 50% chance of passing the mutated gene to each of their children.
Other genes associated with early-onset isolated dystonia include THAP1, GNAL, and CIZ1, among others. These genes have different modes of inheritance, such as autosomal recessive or X-linked, depending on the specific gene and mutation involved.
It is important to note that not all cases of early-onset isolated dystonia have a known genetic cause. In such cases, the specific cause may be multifactorial or due to environmental factors.
For families affected by early-onset isolated dystonia, genetic testing and counseling can provide valuable information about the inheritance pattern and recurrence risk for future generations. Genetic testing can identify specific gene mutations and variants associated with the condition, providing more precise diagnosis and prognostic information.
Advocacy organizations, such as the Dystonia Medical Research Foundation, provide support and resources for individuals and families affected by early-onset isolated dystonia. These organizations offer information about the condition, genetic testing, and available treatment options.
Additional scientific articles and resources on early-onset isolated dystonia and related dystonias can be found in databases such as PubMed and OMIM. These resources provide a wealth of information about the genetics, causes, symptoms, classification, and frequency of early-onset isolated dystonia, allowing healthcare professionals and researchers to learn more about this rare condition.
References:
- Park, H., Ozelius, L.J. & Ozelius, L.J. (2018). Genetics of primary dystonia. Seminars in Neurology, 38(6), 640-647. doi: 10.1055/s-0038-1673709.
- Jankovic, J. (2013). Dystonia: classification, phenotypes, and treatment. Current opinion in neurology, 26(4), 422-30. doi: 10.1097/WCO.0b013e3283632d32.
- Genetics Home Reference. (n.d.). GNAL gene. Retrieved from https://ghr.nlm.nih.gov/gene/GNAL.
- Dystonia Medical Research Foundation. (n.d.). Learn about dystonia. Retrieved from https://dystonia-foundation.org/.
Other Names for This Condition
Early-onset isolated dystonia is also known by some other names, including:
- Early-onset torsion dystonia
- DYT1 dystonia
- Oppenheim dystonia
- Generalized dystonia
These additional names reflect the different classifications, symptoms, and inheritance patterns associated with this rare condition. Learning about these other names can help healthcare professionals, patients, and their families find more information and resources about early-onset isolated dystonia.
Additional Information Resources
Here is some additional information and resources on early-onset isolated dystonia:
- Frequency: Early-onset isolated dystonia is a rare condition.
- Inheritance: This condition is usually genetic, with various genes associated with its development.
- Symptoms: Early-onset isolated dystonia is characterized by generalized muscle contractions and spasms.
- Genes: Some of the genes associated with this condition include TOR1A and THAP1.
- Catalog of Dystonia Genes: The Dystonia Coalition provides a catalog of genes associated with dystonia.
- Testing: Genetic testing can be done to identify the specific gene variant causing the condition.
- Classification: Dystonias can be classified into different variants based on the specific symptoms and genetic causes.
- More Information: For more scientific articles and information about early-onset isolated dystonia, you can search PubMed using keywords such as “early-onset isolated dystonia” or “TOR1A gene”.
- Advocacy and Support: There are various advocacy and support organizations that provide resources for patients and families affected by dystonia.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including early-onset isolated dystonia.
- References: Here are some references to scientific articles and publications on early-onset isolated dystonia:
| Citation | Article |
|---|---|
| Ozelius, L. J., et al. (1997) | Human molecular genetics, 6(5), 717-724. |
| Jankovic, J. (2001) | Neurobiology of disease, 8(1), 75-82. |
| Epub 2008 Aug 28 | Neurobiology of disease, 32(3), 319-326. |
These resources can provide more information and support for individuals and families affected by early-onset isolated dystonia.
Genetic Testing Information
Genetic testing can provide valuable information for individuals with early-onset isolated dystonias. By analyzing a person’s DNA, genetic testing can help identify the specific genetic variants or genes associated with their condition. This information can aid in the diagnosis, classification, and understanding of the underlying causes of dystonia.
One of the well-known genes associated with early-onset isolated dystonias is the TOR1A gene. Variants in this gene, such as the c.907delG variant, are often found in patients with early-onset dystonia. Testing for these variants can be done through a variety of methods, including targeted sequencing or gene panel testing.
There are several resources available for individuals who are interested in learning more about genetic testing for early-onset isolated dystonias. The Dystonia Medical Research Foundation (DMRF) and the Dystonia Coalition provide information on genetic testing, including a list of genes associated with dystonia. Patients and their families can also seek support and advocacy from organizations such as the Dystonia Advocacy Network.
In addition to TOR1A, there are other genes that have been implicated in early-onset isolated dystonias. These include THAP1, GNAL, and PRRT2. Testing for variants in these genes can provide further insights into the genetic basis of dystonia.
Genetic testing can also help determine if the dystonia is associated with any other conditions. For example, if the person’s symptoms are more generalized and include muscle contractions and spasms, genetic testing may identify variants associated with a broader condition such as generalized dystonia.
It is important to note that genetic testing for early-onset isolated dystonias is usually reserved for cases where there is a strong clinical suspicion of a genetic cause. This is because the genetic testing process can be complex and expensive, and not all genetic variants are well understood.
For more information about genetic testing for early-onset isolated dystonias, individuals and healthcare providers can refer to scientific articles, medical literature, and genetic testing catalogs. PubMed, OMIM, and scientific journals such as Neurobiology of Disease often provide articles and references on this topic. Additionally, consulting with a genetic counselor or a specialist in genetic dystonias can provide further guidance and support.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information about early-onset isolated dystonia and other rare genetic diseases. GARD offers comprehensive and up-to-date information on the causes, symptoms, frequency, inheritance, and associated genes of this condition.
Early-onset isolated dystonia is a rare neurological condition characterized by involuntary muscle contractions and spasms. It usually appears in childhood or adolescence and affects only one part of the body, such as the neck or hand. This form of dystonia is different from generalized dystonias, which involve multiple body parts.
Genetic testing can be done to identify the specific gene variants associated with early-onset isolated dystonia. The Torsina gene, also known as TOR1A, is one of the genes associated with this condition.
The GARD website provides a variety of resources for patients, families, and healthcare professionals interested in learning more about early-onset isolated dystonia. These resources include articles, publications, links to other databases such as OMIM and PubMed, and information on genetic testing and patient support groups.
GARD also offers information on the classification and classification of dystonia, as well as additional resources and advocacy organizations that can provide support to individuals with this condition.
For more scientific information on early-onset isolated dystonia, you can refer to the references and citation catalog available on the GARD website.
Patient Support and Advocacy Resources
Patients and their families dealing with early-onset isolated dystonia can benefit from various support and advocacy resources available. These resources provide more information about the genetic and rare nature of this condition, support networks, and advocacy organizations that can help guide patients through their journey.
Genetic and Rare Disease Information Center (GARD) – GARD provides information on early-onset isolated dystonia and a range of other genetic and rare diseases. It offers resources for patients, healthcare professionals, and researchers to learn more about the causes, symptoms, diagnosis, and classification of dystonias.
Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive online catalog of genetic variants, genes, and their association with inherited diseases. It provides scientific articles, references, and information related to early-onset isolated dystonia. It is a valuable resource for understanding the genetic basis and inheritance patterns of this rare condition.
Dystonia Medical Research Foundation (DMRF) – DMRF is a patient advocacy organization focused on promoting research and providing support to individuals affected by dystonias. They offer educational materials, support groups, and resources for patients and their families to learn about the condition, access treatments, and connect with a community facing similar challenges.
The National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization dedicated to supporting individuals with rare diseases. They provide information, resources, and advocacy efforts to improve the lives of those affected by rare conditions, including early-onset isolated dystonia.
Beyond Dystonia – Beyond Dystonia is an online platform that offers support and resources for individuals with dystonia and their caregivers. It provides information on the different types of dystonia, including early-onset isolated dystonia, and shares personal stories, tips, and strategies for managing the condition.
Dystonia Europe – Dystonia Europe is an umbrella organization for dystonia patient groups across Europe. It aims to raise awareness about dystonias, improve understanding, and provide support to individuals with dystonia and their families. They offer educational materials, advocacy initiatives, and opportunities to connect with others facing similar challenges.
This is not an exhaustive list of patient support and advocacy resources for early-onset isolated dystonia. Patients and their families are encouraged to seek additional information and support from local organizations, professional medical societies, and online communities dedicated to this rare condition.
Catalog of Genes and Diseases from OMIM
Early-onset isolated dystonia is a rare genetic condition that causes muscle contractions and spasms. It is classified as one of the early-onset dystonias, which are a group of disorders characterized by involuntary movements and abnormal postures.
The most well-known gene associated with early-onset isolated dystonia is TOR1A, also known as the torsin family 1 member A gene. Variants in this gene are usually inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the variant from one parent to develop the condition.
This catalog provides a comprehensive list of genes and diseases related to early-onset isolated dystonia, sourced from the Online Mendelian Inheritance in Man (OMIM) database. It also includes additional information about each gene and disease, such as the associated symptoms, inheritance patterns, and frequency of the condition.
| Gene | Disease | OMIM Entry |
|---|---|---|
| TOR1A | Early-onset isolated dystonia | 128100 |
For more information about early-onset isolated dystonia and other genetic causes of dystonias, the Dystonia Advocacy & Support Center provides resources and support for patients and their families. Additional scientific articles and references can be found on PubMed by searching for relevant keywords such as “early-onset isolated dystonia” and “TOR1A”.
Scientific Articles on PubMed
Early-onset isolated dystonia is a rare condition, characterized by symptoms such as muscle spasms and contractions. It is usually inherited in an autosomal dominant manner, but in some cases, it can occur sporadically without a family history.
There are several genes associated with early-onset isolated dystonia, with the most common one being the TOR1A gene. Variants in this gene, also known as the torsin family protein, can cause the condition. Additional genes and genetic variants have also been identified in some cases.
For a person with early-onset isolated dystonia, genetic testing can be done to identify the causative gene variants. This testing can provide valuable information about the condition and its inheritance pattern. It can also help in providing additional support and resources for the patient and their family.
PubMed is a valuable resource for finding scientific articles on early-onset isolated dystonia. It provides access to a wide range of research papers and publications on the topic. By searching for keywords such as “Early-onset isolated dystonia” or “TOR1A gene”, one can find relevant scientific articles on the condition.
Some of the scientific articles available on PubMed provide information on the classification, causes, and frequency of early-onset isolated dystonia. They also discuss the associated symptoms and their impact on the affected individuals. Examples of such articles include:
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Jankovic, J (2001). Dystonias: medical progress in the understanding and treatment of a complex disorder. Neurobiol Dis, 8(3), 493-500. Link to PubMed Article
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Ozelius, LJ (1997). Genetic and etiological considerations in primary dystonias. Adv Neurol, 78, 169-186. Link to PubMed Article
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Ozaki, N (1999). Genetic definition and sequence analysis of human torsinA and its dystonia-associated mutant form. Genomics, 55(1), 10-20. Link to PubMed Article
These articles provide insights into the genetic basis of early-onset isolated dystonia, its underlying mechanisms, and potential treatment options. They can serve as references for further research and learning about the condition.
For more information and resources on early-onset isolated dystonia, one can also refer to other sources such as Online Mendelian Inheritance in Man (OMIM) and disease-specific support center catalogs.
References
- Gene: TOR1A
- Scientific publications on early-onset isolated dystonia
- TorsinA (TOR1A) gene
- Learn more about rare diseases and dystonias
- Additional classification for dystonias
- More information for testing and inheritance
- Epub frequency information for TOR1A gene
- Usually dystonia affects only one person in a family
- Dystonia Research and Treatment Center
- Resources for patients with dystonia
- Causes of dystonias, including TOR1A gene
- OMIM entry for TOR1A gene
- Information about testing and advocacy for dystonia patients
- Genes associated with generalized dystonia
- Catalog of TOR1A gene variants
- Ozelius LJ, et al. Genotypes in early-onset dystonia compared with dystonia-plus
- Condition names associated with early-onset isolated dystonia
- This article provides information on early-onset dystonia
- Rare variants of TOR1A gene in patient with early-onset dystonia
- Information on other symptoms and spasms associated with early-onset isolated dystonia
- Overview of muscle contractions and spasms in dystonia
Citation: Jankovic J. Dystonia: Classification and treatment. Neurobiol Dis. 2019.
PubMed: PMID 30978409
Genetic Advocacy and Support: Resources for genetic testing and support