Spinocerebellar ataxia type 3

Spinocerebellar ataxia type 3, also known as SCA3, is a rare genetic condition that affects the cerebellum and spinal cord. The disease is caused by a mutation in the ATXN3 gene and is inherited in an autosomal dominant pattern. The frequency of SCA3 varies among different populations, with the highest prevalence reported in individuals of Azorean descent.

SCA3 is characterized by progressive ataxia, which is the loss of coordination and muscle control. The signs and symptoms of the disease can vary widely, but commonly include balance problems, difficulty with speech and swallowing, muscle stiffness and weakness, and involuntary eye movements. As the disease progresses, individuals may also experience cognitive and psychiatric changes, such as memory loss and depression.

Currently, there is no cure for SCA3, and treatment focuses on managing the symptoms and improving quality of life. The Spinocerebellar Ataxia Center at Johns Hopkins offers resources and support for individuals with SCA3 and their families, including information on clinical trials and genetic testing. The National Organization for Rare Disorders (NORD) and the National Ataxia Foundation (NAF) are also valuable advocacy and support resources for patients with SCA3.

Research on SCA3 is ongoing, and there are a number of scientific articles and references available on PubMed, a catalog of medical publications. These resources provide valuable information on the genetic causes of SCA3, the clinical features of the disease, and the latest advancements in treatment and research. Individuals and their families can also learn more about SCA3 from the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders.

In conclusion, SCA3 is a rare genetic condition that affects the cerebellum and spinal cord. The disease is characterized by progressive ataxia and can lead to significant impairment in movement and function. While there is currently no cure, resources and support are available to help individuals with SCA3 manage their symptoms and improve their quality of life. Ongoing research and advancements in genetic testing offer hope for better understanding and treatment of this rare condition in the future.

Frequency

Spinocerebellar ataxia type 3, also known as Machado-Joseph disease, is a rare genetic condition that affects the cerebellum and brainstem. It is estimated to occur in approximately 1 in 20,000 to 1 in 100,000 individuals worldwide.

This condition is caused by mutations in the ATXN3 gene, which codes for the ataxin-3 protein. Most cases of spinocerebellar ataxia type 3 are inherited in an autosomal dominant pattern, which means that only one copy of the mutated gene is needed to develop the condition. However, some cases can also occur sporadically, without a family history of the disease.

Spinocerebellar ataxia type 3 was first described in individuals of Azorean ancestry, a group of islands off the coast of Portugal, where it is more common. However, it has since been reported in people from various ethnic backgrounds.

Signs and symptoms of spinocerebellar ataxia type 3 can vary widely from person to person. The age of onset, rate of disease progression, and specific symptoms can also differ. Some individuals may experience symptoms starting in childhood, while others may not develop symptoms until later in life.

There is currently no cure for spinocerebellar ataxia type 3, and treatment is focused on managing the symptoms and improving quality of life. Supportive care, physical therapy, and assistive devices may be recommended to help individuals with mobility and daily activities.

Research studies and clinical trials are underway to better understand the underlying causes of spinocerebellar ataxia type 3 and develop potential treatments. Resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrialsgov provide additional information and references for further research and learning about this rare condition.

Genetic testing can be done to confirm a diagnosis of spinocerebellar ataxia type 3. This involves analyzing the ATXN3 gene for mutations. Genetic counseling may also be recommended for individuals and families affected by this condition to discuss inheritance patterns and the risk of passing on the mutated gene to future generations.

Overall, spinocerebellar ataxia type 3 is a rare genetic disorder that affects the cerebellum and brainstem. It can cause a wide range of symptoms and its frequency varies among different populations. Ongoing research and support from advocacy groups and patient organizations play a crucial role in advancing our understanding and management of this rare disease.

Causes

The main cause of Spinocerebellar ataxia type 3 (SCA3) is a genetic mutation in the ATXN3 gene. This gene provides instructions for making a protein called ataxin-3, which is necessary for the normal function of nerve cells in the brainstem, spinal cord, and cerebellum.

SCA3 is an inherited condition, which means it is passed down from parents to their children. The inheritance pattern of SCA3 is known as autosomal dominant, meaning that a person only needs to inherit a mutated copy of the ATXN3 gene from one parent in order to develop the condition. If a parent has SCA3, each child has a 50% chance of inheriting the mutated gene and developing the condition.

The ATXN3 gene mutation is characterized by the expansion of a segment of DNA called a CAG repeat. This repeat consists of a specific sequence of three DNA building blocks, cytosine (C), adenine (A), and guanine (G). In unaffected individuals, this repeat is typically present in the gene in a range of 12 to 44 times. However, in individuals with SCA3, the repeat is expanded to 55 to 86 times. The number of repeat units tends to increase in each generation, leading to the earlier onset and more severe symptoms of the condition in subsequent generations.

Most cases of SCA3 are caused by a specific CAG repeat expansion in the ATXN3 gene. However, rare cases of SCA3-like syndromes have been reported in individuals with repeat expansions in other genes. These conditions are still considered part of the SCA3 spectrum, as they share similar signs and symptoms.

Testing for SCA3 can be done through a genetic test that detects the CAG repeat expansion in the ATXN3 gene. This test can confirm the diagnosis of SCA3 in individuals who have signs and symptoms of the condition. Genetic testing can also be offered to at-risk individuals, such as family members of affected individuals, to determine their risk of developing the condition.

In addition to genetic testing, clinical trials and research studies are being conducted to learn more about the causes and mechanisms of SCA3. These studies aim to better understand the condition and develop potential treatments. Information about ongoing clinical trials and research studies can be found on websites such as ClinicalTrials.gov and PubMed.

For individuals and families affected by SCA3, there are several resources available for support, advocacy, and information. These include disease-specific organizations and centers that focus on rare genetic conditions. These resources can provide additional information about SCA3, connect individuals with support groups, and offer resources for managing the condition.

References:

Spinocerebellar ataxia type 3. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3
Spinocerebellar ataxia type 3. National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/spinocerebellar-ataxia-type-3/
Spinocerebellar ataxia type 3. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/109150

Learn more about the gene associated with Spinocerebellar ataxia type 3

Spinocerebellar ataxia type 3, also known as SCA3, is a rare genetic disorder that affects the movement and coordination of individuals. Most commonly, it is caused by a mutation in the ATXN3 gene, which is responsible for producing a protein called ataxin-3.

Research studies have shown that the ATXN3 gene is located on chromosome 14 and contains a segment of DNA called a CAG repeat. In individuals with SCA3, this CAG repeat is expanded, resulting in the production of an abnormal form of ataxin-3 that is toxic to the brain and spinal cord.

Within the brain, ataxin-3 is most abundant in the cerebellum and brainstem, which are important regions for coordinating movement and balance. The abnormal ataxin-3 disrupts the normal functioning of these regions, leading to the characteristic symptoms of SCA3, which include progressive loss of muscle coordination, speech impairments, and difficulty swallowing.

Due to the rarity of SCA3, resources and support for patients and their families can be limited. However, there are several advocacy groups and patient resources available that provide additional information and support for individuals with SCA3. These resources often offer information on clinical trials, genetic testing, and research articles related to SCA3 and other rare ataxia diseases.

If you or someone you know is affected by SCA3, it is important to learn more about the condition and its associated gene. Scientific research and studies continue to uncover new information about the causes, inheritance patterns, and potential treatments for SCA3. By staying informed and connected to the SCA3 community, individuals can access the most up-to-date resources and support for managing this condition.

For more information about the gene associated with Spinocerebellar ataxia type 3, you can visit the following resources:

MedlinePlus: Provides comprehensive information on SCA3 and other genetic diseases. (website)
PubMed: A database of scientific articles that can be searched for specific information on SCA3 and ATXN3 gene studies. (website)
National Ataxia Foundation: Offers support, educational materials, and resources for individuals and families affected by ataxia, including SCA3. (website)
Azorean Disease Database: Specifically focuses on SCA3 in Azorean populations and provides information on the genetic and clinical features of the disease. (website)

Inheritance

Spinocerebellar ataxia type 3 (SCA3) is a rare genetic syndrome with an autosomal dominant inheritance pattern. This means that a person with one affected parent has a 50% chance of inheriting the condition. SCA3, also known as Machado-Joseph disease, is caused by a mutation in the ATXN3 gene.

The ATXN3 gene provides instructions for making a protein called ataxin-3. This protein is involved in the normal function of nerve cells in the brain, and the mutation in the ATXN3 gene leads to the production of an abnormal form of ataxin-3. The abnormal ataxin-3 protein aggregates and forms clumps in certain regions of the brain, particularly in the cerebellum and brainstem.

The frequency of SCA3 varies among different populations, with the highest reported frequency in the Azorean population of Portugal. However, SCA3 has been reported in other populations as well.

Inheritance of SCA3 follows the genetic principles of autosomal dominant inheritance. This means that each child of an affected individual has a 50% chance of inheriting the condition. The syndrome can be passed down through multiple generations, with affected individuals often having a parent or grandparent with the condition.

Genetic testing is available to confirm a diagnosis of SCA3. Testing can be done for the mutation in the ATXN3 gene, which will help determine if a person has inherited the condition. There are also resources available for genetic counseling and support for individuals and families affected by SCA3.

In addition to genetic testing, there are other resources available for individuals with SCA3. The spinocerebellar ataxia type 3 section of the Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the condition, including links to scientific articles and other references.

The clinicaltrials.gov website lists current studies and clinical trials related to SCA3. These studies may provide additional information about the condition and potential treatments. Various advocacy and support organizations also offer resources and information for individuals with SCA3 and their families.

SCA3 is a progressive condition, with symptoms typically appearing between the ages of 30 and 40. Early signs of the condition may include clumsiness and unsteady gait. As the disease progresses, individuals may develop muscle weakness, difficulty speaking and swallowing, and problems with coordination and balance. Some individuals may also experience sleep disturbances and other unwanted symptoms.

Overall, SCA3 is a rare condition that is caused by a genetic mutation in the ATXN3 gene. The inheritance pattern is autosomal dominant, meaning that each child of an affected individual has a 50% chance of inheriting the condition. Genetic testing and resources are available to help individuals and families affected by SCA3.

Other Names for This Condition

Spinocerebellar ataxia type 3
Machado-Joseph disease
SJC3
Spinocerebellar ataxia type III
SCA3
Spinocerebellar ataxia-3
Machuado-Joseph syndrome
Azorean disease
MJD

Spinocerebellar ataxia type 3, also known as Machado-Joseph disease or SCA3, is a rare genetic condition caused by mutations in the ataxin-3 gene (ATXN3). It is characterized by progressive degeneration of the cerebellum, spinal cord, and brainstem. This condition affects individuals of all ages and has a wide range of symptoms, including imbalance, uncoordinated movements, muscle weakness, and difficulty swallowing.

Research on spinocerebellar ataxia type 3 is ongoing, with scientific studies and clinical trials aimed at understanding the genetic causes and developing potential treatments. Inheritance of the condition follows an autosomal dominant pattern, meaning that an affected person has a 50% chance of passing the mutated gene to each of their children.

For more information about spinocerebellar ataxia type 3, its genetic causes, clinical features, and management, you can refer to the resources provided below:

OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
Genetic and Rare Diseases Information Center (GARD)
Rare Diseases Clinical Research Network
ClinicalTrials.gov – a database of clinical trials
PubMed – a database of scientific articles

Additional support and information can be found through patient advocacy organizations and resources focused on spinocerebellar ataxia and other related disorders.

Additional Information Resources

OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the inheritance and clinical features of Spinocerebellar Ataxia Type 3 (SCA3) and other related diseases. Visit the OMIM website for more information: OMIM.org.
PubMed: PubMed is a database of scientific articles and research studies. It contains a wealth of information about SCA3, its genetic causes, clinical signs, and associated diseases. Search PubMed for more articles and studies related to Spinocerebellar Ataxia Type 3: pubmed.ncbi.nlm.nih.gov.
Scientific Resources: Learn more about SCA3 and related diseases from scientific resources like the National Ataxia Foundation (NAF) and other neurological research centers. These resources provide valuable information about the condition, its genetic basis, and available support: ataxia.org.
Patient Support and Advocacy: Patient support and advocacy groups can offer valuable resources and support for individuals with SCA3 and their families. Visit the National Ataxia Foundation’s website or other organizations like the Spinocerebellar Ataxia Support Center for more information and assistance in dealing with the condition: ataxia.org.
Genetic Testing: Genetic testing can confirm the presence of mutations in the ATXN3 gene, which is responsible for SCA3. Talk to your healthcare provider or genetic counselor to learn more about the availability and benefits of genetic testing for SCA3: ncbi.nlm.nih.gov/gtr.
ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to SCA3. Explore this database to learn more about current studies investigating potential treatments and interventions for SCA3: clinicaltrials.gov.

Genetic Testing Information

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a rare genetic condition that affects the cerebellum and other parts of the brain. It is caused by a mutation in the ATXN3 gene.

Genetic testing can be done to identify individuals who carry the mutation in the ATXN3 gene. This type of testing can be useful for diagnosis, as well as for determining the risk of passing on the condition to offspring.

SCA3 is inherited in an autosomal dominant manner, which means that if a person has the mutation in one of their ATXN3 genes, they have a 50% chance of passing it on to each of their children.

Genetic testing for SCA3 can be done through specialized laboratories and clinics. The frequency of SCA3 varies among different populations, with higher rates observed in certain ethnic groups such as the Azorean population.

There are several resources available to learn more about genetic testing for SCA3:

The National Ataxia Foundation provides information and resources on genetic testing for spinocerebellar ataxias, including SCA3.
The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about genetic testing for various rare diseases, including SCA3.
PubMed, a database of scientific articles, can be used to find research studies on genetic testing for SCA3.
ClinicalTrials.gov provides information about clinical trials related to genetic testing for SCA3.
OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders, including SCA3.

It is important to note that genetic testing can have both benefits and limitations. It can provide valuable information about the genetic cause of a condition and help with diagnosis and treatment decisions. However, it can also uncover unwanted information about a person’s genetic makeup and may have implications for insurance and employment. It is important to discuss the potential risks and benefits of genetic testing with a healthcare professional before making a decision.

In addition to genetic testing, there are other clinical signs and symptoms that can be used to diagnose SCA3. These may include progressive ataxia, which refers to a loss of coordination and balance, as well as other neurological abnormalities such as muscle weakness and difficulty with speech and swallowing.

Overall, genetic testing can provide valuable information about the genetic cause of SCA3 and help individuals and their families make informed decisions about their health and future. It is important to seek information and resources from reliable sources, such as medical professionals and reputable organizations, when considering genetic testing for SCA3.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides information on rare or genetic diseases, including Spinocerebellar Ataxia Type 3 (SCA3).

SCA3, also known as Machado-Joseph Disease, is a rare genetic disorder that affects the cerebellum, the part of the brain responsible for coordinating movement. It is characterized by progressive ataxia, or loss of coordination, and often includes other signs such as muscle stiffness and weakness. SCA3 is caused by mutations in the ATXN3 gene, which is involved in the production of a protein called ataxin-3.

GARD offers a variety of resources and information on SCA3, including:

A comprehensive catalog of rare diseases, including SCA3
Information on genetics and inheritance patterns
Articles and research studies on SCA3, available through PubMed
Information on genetic testing for SCA3 and other related diseases
Support and advocacy resources for individuals with SCA3 and their families
Additional scientific and clinical trial resources for SCA3
References to other sources of information, such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov

Patient Support and Advocacy Resources

If you or someone you know is affected by Spinocerebellar Ataxia Type 3 (SCA3), it is important to have access to resources and support systems. Here is a catalog of patient support and advocacy resources that can provide information, assistance, and guidance for individuals with this condition and their families.

Ataxia UK: Ataxia UK is a charity dedicated to supporting individuals with ataxia and their families. They provide information about ataxia, support networks, and research updates.
National Ataxia Foundation (NAF): The NAF is a nonprofit organization that supports individuals affected by ataxia through research, education, and support services. They offer resources, support groups, and educational materials for individuals with ataxia and their families.
Spinocerebellar Ataxia News: This online news source provides the latest updates on research, clinical trials, and treatment options for spinocerebellar ataxia, including SCA3. They also offer articles about living with ataxia and tips for managing symptoms.
Azorean Ataxia: This website provides information specifically about Azorean Ataxia, a rare form of spinocerebellar ataxia caused by a specific gene mutation. It offers resources, research updates, and support groups for individuals with this condition.
Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information about genetic and rare diseases, including spinocerebellar ataxia type 3. They offer resources, support services, and information about clinical trials and research studies.

Additional resources and research studies can be found on clinicaltrials.gov and PubMed. These websites provide scientific articles, research studies, and information about ongoing clinical trials related to spinocerebellar ataxia and other genetic diseases.

It is important to learn as much as possible about the causes, signs, and available treatments for spinocerebellar ataxia type 3. By accessing these resources, individuals and their families can find support, connect with others facing similar challenges, and stay informed about the latest developments in the field.

Research Studies from ClinicalTrialsgov

Spinocerebellar ataxia type 3 is a rare genetic condition that affects individuals, particularly those of Azorean descent. It is also known as Machado-Joseph disease.
Ataxia refers to the lack of muscle control and coordination, which can affect movements, speech, and other functions of the body. In spinocerebellar ataxia type 3, the ataxia is caused by a mutation in the ataxin-3 gene.
Research studies conducted on spinocerebellar ataxia type 3 are aimed at understanding the causes, inheritance patterns, and progression of the condition.
These studies provide valuable information about the clinical features, signs, and symptoms associated with spinocerebellar ataxia type 3. They also focus on the neurological abnormalities observed in affected individuals, such as degeneration of the cerebellum and brainstem.
Additionally, research studies explore potential treatments and interventions for spinocerebellar ataxia type 3. This includes investigating the role of ataxin-3 and its interactions with other genes in the development of the condition
ClinicalTrials.gov is a comprehensive catalog of research studies and clinical trials related to various diseases and conditions. It provides a centralized resource for individuals seeking information about ongoing research and opportunities to participate in studies.
Scientific articles and references published on PubMed also support the research conducted on spinocerebellar ataxia type 3. These articles provide additional information about the genetic basis of the condition, testing methods, and the frequency of the disease within different populations.
Patient advocacy groups and organizations play a crucial role in raising awareness about spinocerebellar ataxia type 3 and providing resources for affected individuals and their families. These resources include educational materials, support networks, and information about research studies and clinical trials.
Further research in the field of spinocerebellar ataxia type 3 is needed to understand the underlying mechanisms of the disease, develop targeted therapies, and improve the quality of life for individuals living with this condition.

Catalog of Genes and Diseases from OMIM

Spinocerebellar ataxia type 3, also known as SCA3 or Machado-Joseph disease, is a genetic condition caused by a mutation in the ATXN3 gene. It is characterized by progressive degeneration of the cerebellum and spinal cord, leading to symptoms such as unsteady gait, difficulties with coordination and balance, and muscle weakness.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic diseases. It serves as a valuable resource for individuals and researchers seeking information about spinocerebellar ataxia type 3 and other rare genetic conditions.

Within the OMIM catalog, you can find articles on the ATXN3 gene, its associated diseases, and the clinical signs and symptoms observed in affected individuals. The catalog provides references to scientific studies, clinical trials, and other resources that offer more information on the causes, inheritance patterns, diagnosis, and management of this genetic condition.

OMIM also offers additional resources and advocacy center information to support patients and their families. You can learn more about the frequency of spinocerebellar ataxia type 3, the genetic testing process, and available support and research organizations.

For individuals interested in research on spinocerebellar ataxia type 3, the OMIM catalog provides a comprehensive collection of references and publications from PubMed. These articles cover various aspects of the disease, including its genetic basis, clinical features, disease progression, and potential treatments.

Overall, the OMIM catalog on spinocerebellar ataxia type 3 is a valuable tool for anyone seeking to learn more about this genetic condition and its associated genes, diseases, and research. It serves as a reliable source of information for patients, healthcare professionals, and researchers interested in understanding and managing this rare syndrome.

Scientific Articles on PubMed

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a rare genetic disorder associated with the ataxin-3 gene. It is characterized by gradually worsening ataxia, or lack of muscle coordination, which affects the person’s movements and speech.

Most scientific articles on PubMed are focused on understanding the pathophysiology, progression, and potential treatments for SCA3. Researchers are particularly interested in studying the atxn3 gene and its effects on the cerebellum and other regions of the brain. These studies aim to uncover the underlying mechanisms of the disease and find targets for therapeutic interventions.

The frequency of SCA3 is relatively low, but due to its association with the atxn3 gene, it has been extensively studied. The PubMed catalog provides a wealth of scientific information on SCA3, including references to other related studies and articles.

An important aspect of SCA3 research is the genetic inheritance of the disease. Due to its autosomal dominant inheritance pattern, individuals with a family history of SCA3 have a 50% chance of inheriting the gene mutation and developing the condition. Genetic testing plays a crucial role in diagnosing SCA3 and providing individuals with important information about their condition.

Additional studies on PubMed also explore the clinical signs, symptoms, and progression of SCA3. They aim to learn more about the various stages of the disease and how it affects different individuals. Some research focuses on identifying potential biomarkers or imaging techniques that can aid in the diagnosis and monitoring of SCA3 patients.

SCA3 is not only the focus of scientific research but also draws attention from advocacy groups and support organizations. These resources provide information about the condition, support for individuals and their families, and help raise awareness about SCA3 and related diseases.

Studies on PubMed also investigate other genetic diseases associated with the atxn3 gene, such as spinocerebellar ataxia type 1 and type 2. Comparing these diseases can provide valuable insights into the common mechanisms and differences between various forms of spinocerebellar ataxias.

In conclusion, PubMed serves as a valuable resource for scientific articles on spinocerebellar ataxia type 3. Researchers can find a wealth of information about the genetics, pathophysiology, clinical signs, and potential treatments for this rare neurological disorder. The platform also provides references to other relevant studies, enhancing the overall understanding of SCA3 and related diseases.

References

GeneReviews: Spinocerebellar Ataxia Type 3

This website provides in-depth information about the genetic causes, inheritance pattern, signs and symptoms, and testing for Spinocerebellar Ataxia Type 3. It also offers resources for support, advocacy, and research. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1218/
OMIM: Spinocerebellar Ataxia 3

OMIM provides detailed information about the genetic causes, associated genes, and clinical features of Spinocerebellar Ataxia Type 3. Available at: https://omim.org/entry/109150
PubMed: Spinocerebellar Ataxia Type 3

PubMed is a database of scientific articles. By searching “Spinocerebellar Ataxia Type 3” on PubMed, you can find research articles and studies related to this condition. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=Spinocerebellar+Ataxia+Type+3
ClinicalTrials.gov: Spinocerebellar Ataxia Type 3

ClinicalTrials.gov provides information about ongoing clinical trials for Spinocerebellar Ataxia Type 3. It includes details about the purpose of the trials, eligibility criteria, and how to participate. Available at: https://clinicaltrials.gov/ct2/results?cond=Spinocerebellar+Ataxia+Type+3