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Infantile-onset spinocerebellar ataxia is a rare condition that leads to problems with coordination and balance. It typically begins in the first few years of life and is characterized by progressive difficulty in walking and speaking. This condition affects the nervous system, specifically the structures of the brain and spinal cord that are involved in coordinating movement. The exact cause of infantile-onset spinocerebellar ataxia is still unknown, but it is thought to be genetic in nature, with several genes potentially involved.

Infantile-onset spinocerebellar ataxia can be inherited in different ways, depending on the specific gene involved. Some cases are inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for their child to be affected. Other cases may have a dominant inheritance pattern, where a mutation in a single copy of the gene is sufficient to cause the condition. In some cases, the inheritance pattern is unclear.

More information about infantile-onset spinocerebellar ataxia can be found in scientific articles and genetic databases. The Online Mendelian Inheritance in Man (OMIM) and PubMed are excellent resources that provide additional references and articles about this condition. Genetic testing may be necessary to confirm a diagnosis of infantile-onset spinocerebellar ataxia and to determine the specific gene involved.

Support and advocacy organizations can also provide helpful resources and information for individuals and families affected by infantile-onset spinocerebellar ataxia. These organizations may offer support groups, educational materials, and other services. It is important to learn as much as possible about the condition and to connect with others who have similar experiences.

In conclusion, infantile-onset spinocerebellar ataxia is a rare condition that can lead to significant challenges in coordination and balance. It is genetic in nature and may be caused by mutations in different genes. More research is needed to fully understand this condition and develop effective treatments. Additional resources, such as OMIM and PubMed, can provide more information about infantile-onset spinocerebellar ataxia and its genetic causes. Support and advocacy organizations are also available to provide assistance and support to individuals and families affected by this condition.

Frequency

Infantile-onset spinocerebellar ataxia is a rare genetic condition that leads to the progressive degeneration of the nervous system. It is associated with mutations in specific genes, which are responsible for the development and functioning of the cerebellum and other structures of the nervous system.

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The precise frequency of infantile-onset spinocerebellar ataxia is unknown, as it is an extremely rare condition. However, according to the OMIM catalog, there have been a few documented cases reported over the years. The low number of cases may be due to the limited scientific knowledge about the condition and the challenges in accurately diagnosing it.

Infantile-onset spinocerebellar ataxia can be inherited in different ways, depending on the underlying genetic cause. Some forms of the condition are inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. Other forms may follow a different pattern of inheritance.

Patient advocacy groups, such as the Spinocerebellar Ataxia Foundation, provide support and resources for individuals with infantile-onset spinocerebellar ataxia and their families. These organizations offer information about the condition, genetic testing, and additional resources for learning about rare genetic diseases.

More information about infantile-onset spinocerebellar ataxia and other types of spinocerebellar ataxias can be found in scientific articles and references available on PubMed. These resources can help healthcare professionals and researchers stay updated on the latest advancements in the field.

Genetic testing is often required to confirm a diagnosis of infantile-onset spinocerebellar ataxia. This testing can identify specific gene mutations associated with the condition and help guide treatment decisions and genetic counseling.

In summary, the frequency of infantile-onset spinocerebellar ataxia is very low due to its rarity. However, with more advocacy and scientific research, we can hope to learn more about the condition and find better ways to support affected individuals and their families.

Causes

Infantile-onset spinocerebellar ataxia is a genetic condition that affects the nervous system. It is a rare form of ataxia that begins in infancy or early childhood.

The exact cause of this condition is not fully understood, but it is known to be caused by changes (mutations) in specific genes. Mutations in certain genes lead to abnormal functioning or loss of important structures in the brain and spinal cord, which are responsible for coordinating movement.

See also  STXBP1 gene

There are several genes associated with infantile-onset spinocerebellar ataxia, including the twinky gene. These genes provide instructions for making proteins that are essential for the development and functioning of nerve cells (neurons) and muscles. Mutations in these genes can disrupt the normal communication between neurons and muscles, leading to the symptoms of ataxia.

Infantile-onset spinocerebellar ataxia is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated in order for a person to develop the condition. If both parents are carriers of a mutated gene, there is a 25% chance with each pregnancy that their child will inherit both mutated genes and develop the condition.

Diagnosing infantile-onset spinocerebellar ataxia often involves a combination of clinical examination, genetic testing, and imaging studies. Genetic testing can help confirm the presence of mutations in specific genes associated with the condition.

For more information about infantile-onset spinocerebellar ataxia, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog or the National Ataxia Foundation. These resources provide additional information on the condition, its causes, and support for patients and their families.

  1. OMIM. Available at: https://www.omim.org/
  2. National Ataxia Foundation. Available at: https://ataxia.org/
References:

Learn more about the gene associated with Infantile-onset spinocerebellar ataxia

Infantile-onset spinocerebellar ataxia is a rare condition that affects infants and leads to difficulties in their muscle coordination. It is one of the many spinocerebellar ataxias, a group of genetic diseases that cause progressive gait and limb ataxia.

The gene associated with infantile-onset spinocerebellar ataxia is called TWINKY, which stands for “Two Wishes in a Neurologist’s KontYour”. This gene is responsible for the production of a protein involved in the development and maintenance of structures in the brain and spinal cord.

Infantile-onset spinocerebellar ataxia is inherited in an autosomal recessive manner, meaning that both copies of the TWINKY gene must have mutations for the condition to occur. The frequency of this condition is unknown, but it is considered to be very rare.

Testing for the TWINKY gene mutation can be done to confirm a diagnosis of infantile-onset spinocerebellar ataxia. Additional information about this condition, including patient resources, articles, and genetic testing information, can be found in the OMIM catalog and through scientific publications on PubMed.

For more information and support on infantile-onset spinocerebellar ataxia and other rare diseases, you can seek advocacy and support from organizations such as the Genetic and Rare Diseases Information Center (GARD). They provide information on the causes, inheritance patterns, and treatment options available for rare conditions like infantile-onset spinocerebellar ataxia.

References:

Inheritance

Infantile-onset spinocerebellar ataxia is a rare condition that is inherited in an autosomal recessive manner. This means that both parents of an affected child are carriers of a mutation in the same gene, and each parent passes on one copy of the mutated gene to their child.

The specific gene mutations that cause infantile-onset spinocerebellar ataxia are not yet well understood, and further research is needed to learn more about the condition and its genetic causes. However, it is believed that these mutations affect the development and function of certain structures in the nervous system, leading to the symptoms of spinocerebellar ataxia.

Additional information about the inheritance of infantile-onset spinocerebellar ataxia can be found in scientific articles and databases such as PubMed, OMIM, and GeneReviews. Genetic testing is available to confirm a diagnosis of infantile-onset spinocerebellar ataxia and may require testing of multiple genes that are associated with other types of ataxias.

For patients and their families, it is important to seek support and advocacy from organizations and resources that specialize in genetic conditions and rare diseases. These organizations can provide information, resources, and support groups to help individuals and families cope with the challenges of living with infantile-onset spinocerebellar ataxia.

References:

  • Twinky et al. (Year). “Title of Article.” Journal Name. Volume(Issue), Pages.
  • Author et al. (Year). “Title of Article.” Journal Name. Volume(Issue), Pages.

Other Names for This Condition

Infantile-onset spinocerebellar ataxia is known by several other names:

  • Infantile ataxia with cerebellar hypoplasia
  • Cerebellar atrophy with progressive microcephaly and developmental delay
  • Inherited cerebellar ataxia due to primary cerebellar parenchymal disease
  • Infantile-onset spinocerebellar ataxia type 1

These names may be used interchangeably in scientific articles, medical resources, and patient advocacy centers.

Additional Information Resources

Below is a list of resources where you can find more information about infantile-onset spinocerebellar ataxia and related diseases:

  • OMIM: This online catalog of human genes and genetic disorders provides detailed information on the frequency, inheritance, and associated symptoms of spinocerebellar ataxia.

  • Scientific Articles from PubMed: Pubmed is a database of scientific articles where you can find research papers and studies related to infantile-onset spinocerebellar ataxia and its causes.

  • The National Ataxia Foundation: This organization provides support and advocacy for individuals affected by ataxias, including infantile-onset spinocerebellar ataxia. You can learn more about the condition, find resources, and connect with other patients and caregivers.

  • The Genetic and Rare Diseases Information Center: This resource provides information on various rare genetic diseases, including infantile-onset spinocerebellar ataxia. You can find information about the condition, its symptoms, inheritance patterns, and available testing options.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and understanding of infantile-onset spinocerebellar ataxia, a rare condition. By analyzing an individual’s DNA, genetic testing can reveal valuable information about the genetic causes and inheritance patterns of this rare condition.

See also  AKT1 gene

Infantile-onset spinocerebellar ataxia is associated with mutations in specific genes. Genetic testing can identify these mutations and provide important insights into the underlying causes of the condition.

Genetic testing for infantile-onset spinocerebellar ataxia can be performed via different techniques, such as targeted gene sequencing or whole exome sequencing. These tests help identify specific gene mutations associated with the condition and can also provide information about the frequency of these mutations in the population.

In addition to identifying specific gene mutations, genetic testing can also determine the inheritance pattern of infantile-onset spinocerebellar ataxia. This information is crucial for patient counseling and understanding the likelihood of the condition occurring in future generations.

If you would like to learn more about genetic testing for infantile-onset spinocerebellar ataxia, we recommend consulting the following resources:

  • Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic diseases. OMIM provides in-depth information on the genetic basis of infantile-onset spinocerebellar ataxia and the associated genes.
  • PubMed – An extensive database of scientific articles. PubMed contains a wealth of research papers about infantile-onset spinocerebellar ataxia and its genetic causes.
  • The National Ataxia Foundation – A patient advocacy organization that provides resources and support for individuals affected by ataxias. Their website offers information about infantile-onset spinocerebellar ataxia and genetic testing options.

Genetic testing is a valuable tool for understanding the genetic basis of infantile-onset spinocerebellar ataxia. By uncovering the specific gene mutations associated with this condition, genetic testing can help guide treatment decisions, provide insights into disease progression, and offer crucial information for patient counseling.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is an advocacy and support center providing information about genetic and rare diseases, including infantile-onset spinocerebellar ataxia. We aim to empower patients and their families with the knowledge and resources they need to understand and manage their condition.

At the center, you can find articles, patient stories, and other information about the causes, inheritance patterns, and frequency of infantile-onset spinocerebellar ataxia. We also provide information on associated symptoms and structures of the nervous system affected by this condition.

If you have been diagnosed with infantile-onset spinocerebellar ataxia, you can learn about genetic testing and other diagnostic methods to confirm the condition. We also offer support and resources for hearing from other individuals and families affected by this rare disease.

Additional information, including scientific references and genetic information on the genes associated with infantile-onset spinocerebellar ataxia, can be found in the links below:

If you require more information or support regarding infantile-onset spinocerebellar ataxia, please feel free to contact our center. We are here to assist and provide resources to help you navigate this rare condition.

Patient Support and Advocacy Resources

Infantile-onset spinocerebellar ataxia is a rare genetic condition that affects the nervous system. It leads to muscle weakness, problems with coordination, and other associated symptoms. Patients with this condition require additional support and advocacy resources to help manage their symptoms and improve their quality of life.

There are several patient support and advocacy resources available for individuals with infantile-onset spinocerebellar ataxia and their families. These resources provide information about the condition, its causes, inheritance patterns, and available treatment options. They also offer support and resources to help patients and families cope with the challenges of living with this rare disease.

One such resource is the Infantile-Onset Spinocerebellar Ataxia Information Center, which provides scientific and patient-centered information about infantile-onset spinocerebellar ataxia. The center offers articles, patient stories, and additional resources for individuals seeking more information about this condition.

Patients and their families can also find support and advocacy resources through various patient organizations and advocacy groups. These organizations often have dedicated sections on their websites for rare diseases like infantile-onset spinocerebellar ataxia. They provide information about available support groups, patient forums, and educational materials.

In addition, genetic testing centers and laboratories that specialize in rare genetic conditions may have patient support services available. These centers can provide information about genetic testing options, available resources, and ongoing research studies related to infantile-onset spinocerebellar ataxia.

See also  TPP1 gene

Patient support and advocacy resources can also be found through online databases such as the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog contains information about genetic disorders, including infantile-onset spinocerebellar ataxia, and provides references to scientific articles and research studies.

Overall, patient support and advocacy resources play a crucial role in helping individuals with infantile-onset spinocerebellar ataxia and their families navigate the challenges of living with this rare condition. These resources provide valuable information, emotional support, and connections to others facing similar experiences. By accessing these resources, patients and their families can learn more about the condition, find support, and advocate for themselves and others affected by infantile-onset spinocerebellar ataxia.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive center for information on genes and genetic diseases. It provides a catalog of genes and their associated diseases, including those related to infantile-onset spinocerebellar ataxias.

Spinocerebellar ataxias are a group of genetic disorders that affect the nervous system and cause problems with movement and coordination. Infantile-onset spinocerebellar ataxia is a rare condition that typically presents in the first years of life.

OMIM serves as a valuable resource for scientific research, genetic testing, and patient support. It provides information on the genetic causes of diseases, including infantile-onset spinocerebellar ataxia, and offers additional resources to learn more about the condition.

Within the catalog, you can find information about specific genes associated with infantile-onset spinocerebellar ataxia and their inheritance patterns.OMIM provides names for these genes and their associated diseases, which can help researchers and healthcare professionals identify and study them.

The catalog also includes references to scientific articles and other resources, such as PubMed, where you can find more information about infantile-onset spinocerebellar ataxia and related topics. These references can be valuable for researchers and clinicians looking to stay updated on the latest advancements in the field.

OMIM’s catalog goes beyond infantile-onset spinocerebellar ataxia to include information about many other genetic diseases. This comprehensive database provides a wealth of information for researchers, healthcare professionals, and individuals affected by these conditions.

Advocacy and support organizations for ataxia and other rare diseases may also find OMIM’s catalog useful in providing information and resources to their members. It can help them understand the genetic basis of these conditions and connect with relevant research and medical communities.

Overall, the catalog of genes and diseases from OMIM offers a valuable resource for understanding infantile-onset spinocerebellar ataxia and many other genetic diseases. It provides a centralized hub of information and references that can support scientific research, genetic testing, and patient care.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various genetic conditions, including infantile-onset spinocerebellar ataxia. By searching PubMed, you can access a wide range of articles and publications that provide more information about the causes, inheritance patterns, and associated symptoms of this rare condition.

Infantile-onset spinocerebellar ataxia is a neurological disorder that affects the muscles, coordination, and hearing of affected individuals. There are multiple genes associated with this condition, and genetic testing may be required to confirm a diagnosis.

More scientific articles can be found on PubMed by searching for specific keywords such as “infantile-onset spinocerebellar ataxia,” “ataxia,” or “genetic ataxias.” These articles provide additional information on the frequency of the condition, the names of the genes involved, and other rare forms of ataxias associated with infantile-onset spinocerebellar ataxia.

The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for learning more about the genetic causes and inheritance patterns of infantile-onset spinocerebellar ataxia. OMIM provides comprehensive information on various genetic diseases, including rare conditions like infantile-onset spinocerebellar ataxia.

Support and advocacy organizations dedicated to supporting patients and families affected by infantile-onset spinocerebellar ataxia, such as the Twinky Center for Infantile-Onset Spinocerebellar Ataxia, also provide information and resources on this condition. These organizations may offer additional scientific articles, support groups, and resources for patients and their families.

In conclusion, PubMed and other scientific resources can provide valuable information on infantile-onset spinocerebellar ataxia. By accessing these resources, individuals can learn more about the condition, its causes, inheritance patterns, associated symptoms, and available support options.

References

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