Spastic paraplegia type 31 is a rare genetic condition characterized by spasticity and weakness in the legs. It is one of the many types of hereditary spastic paraplegia, a group of diseases that affect the neurons responsible for muscle control in the legs.

This condition is caused by mutations in the gene SPG31. The inheritance of spastic paraplegia type 31 is autosomal recessive, meaning that both copies of the gene in each cell have mutations. This condition has a low frequency in the general population, with only a few known cases reported.

Patients with spastic paraplegia type 31 often experience difficulty walking, muscle weakness, and stiffness in the legs. Additional symptoms may include changes in sensation, muscle wasting, and difficulty with balance and coordination.

Diagnosis of spastic paraplegia type 31 can be confirmed through genetic testing. Scientific articles and resources are available for individuals and families who want to learn more about this condition, including information on inheritance patterns and support from advocacy groups. The Online Mendelian Inheritance in Man (OMIM) database and Pubmed are additional resources for scientific articles and references related to spastic paraplegias.

Frequency

Spastic paraplegia type 31 is a rare genetic condition characterized by spasticity and weakness in the lower limbs. It is one of the many types of hereditary spastic paraplegias (HSP), a group of neurological disorders that affect the function of neurons involved in controlling movement.

The exact frequency of spastic paraplegia type 31 is currently unknown. It is considered a rare condition, but the true prevalence is difficult to determine due to its rarity and the lack of large-scale population studies. However, it is believed to be less common than some other types of hereditary spastic paraplegias.

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Spastic paraplegia type 31 is associated with mutations in the REEP1 gene. These mutations disrupt the normal function of the REEP1 protein, which plays a role in the maintenance of the endoplasmic reticulum in neurons. This disruption leads to the degeneration of neurons involved in motor function, resulting in the characteristic symptoms of the condition.

Genetic testing is available for individuals with suspected spastic paraplegia type 31. Testing the REEP1 gene can confirm the diagnosis and help identify affected individuals within families. In addition, genetic testing can provide information about the inheritance pattern of the condition, as it can be inherited in an autosomal dominant or autosomal recessive manner.

More information about spastic paraplegia type 31 can be found in scientific articles and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information about the genetics, causes, and associated features of the condition.

Support and advocacy organizations may also provide resources and information for individuals with spastic paraplegia type 31 and their families. These organizations can help individuals learn about the condition, connect with other affected individuals, and find support.

References:

  1. OMIM – Spastic Paraplegia 31, Autosomal Dominant (REEP1)
  2. HSP Registry (Hereditary Spastic Paraplegia Program, Center for Neurogenetics)
  3. PubMed – Additional articles about Spastic Paraplegia Type 31

Causes

Spastic paraplegia type 31 is a rare genetic condition that affects individuals worldwide. It is one of many types of spastic paraplegias, characterized by spasticity and weakness in the legs.

The main cause of spastic paraplegia type 31 is mutations in the gene called SPG31. This gene is responsible for producing a protein that is important for the health and function of neurons. When mutations occur in this gene, the protein is not produced correctly, leading to the development of the condition.

There are many other genes associated with spastic paraplegias, and mutations in these genes can cause different types of the condition. Spastic paraplegia type 31 is just one of the many variations of the disease.

Spastic paraplegia type 31 is a genetic condition, which means it can be inherited from parents who carry the mutated gene. In some cases, the condition is inherited in a autosomal dominant manner, which means that only one copy of the mutated gene is needed to develop the condition. In other cases, it is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to occur.

Testing for mutations in the SPG31 gene can be done to confirm a diagnosis of spastic paraplegia type 31. Genetic testing can also be helpful for individuals who have a family history of the condition and are considering having children.

It is important for individuals with spastic paraplegia type 31 to seek support and information. There are many resources available, including scientific articles, patient registries, and advocacy organizations. PubMed and OMIM are valuable sources for learning more about this condition and finding additional support.

References:

  1. SPG31 – Gene – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/gene/SPG31.
  2. Spastic paraplegia 31. Retrieved from https://omim.org/entry/610250.
  3. Spastic Paraplegias, Hereditary – PubMed – NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/?term=Spastic+Paraplegias%2C+Hereditary.
See also  GAN gene

Learn more about the gene associated with Spastic paraplegia type 31

Spastic paraplegia type 31 (SPG31) is a rare genetic condition characterized by spasticity and weakness in the lower extremities. It is caused by mutations in the REEP1 gene.

The REEP1 gene, also known as receptor accessory protein 1, is located on chromosome 2q12.3. It encodes a protein involved in shaping the tubular endoplasmic reticulum (ER) network in neurons. Mutations in this gene can disrupt ER morphology and function, leading to the development of SPG31.

The condition exhibits autosomal dominant inheritance, meaning that an affected individual has a 50% chance of passing the mutated gene to each of their children. However, some cases of SPG31 have also been reported to occur sporadically, without a family history of the condition.

SPG31 is one of the pure spastic paraplegias, a group of conditions characterized by progressive weakness and spasticity of the lower limbs. There are more than 70 known genes associated with various types of hereditary spastic paraplegias, highlighting the genetic heterogeneity of these disorders.

Testing for mutations in the REEP1 gene can be performed to confirm a diagnosis of SPG31. This can be done through various genetic testing methods, such as targeted sequencing or whole-exome sequencing.

For additional information on SPG31 and other related genetic conditions, you can refer to the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These resources provide a comprehensive catalog of genes and disorders, along with scientific articles and references.

In addition, advocacy organizations like the Spastic Paraplegia Foundation and the Rare Diseases Patient Registry and Natural History Study help support individuals and families affected by SPG31 and other rare diseases. They provide information, resources, and a community of support.

Learning more about the gene associated with SPG31 can provide valuable insights into the underlying causes and mechanisms of the condition. It can also contribute to the development of potential treatment strategies targeting the affected pathways and neurons.

Inheritance

Spastic paraplegia type 31 (SPG31) is an inherited condition. This means that it is passed down through families. In most cases, SPG31 is inherited in an autosomal recessive manner, which means that both copies of the gene associated with the condition must have a mutation in order for an individual to be affected.

There are several other types of spastic paraplegias, and each type is associated with a different gene. With this catalog of conditions, individuals with SPG31 can learn more about different types of spastic paraplegias and the genes that cause them.

For more information on SPG31 and other spastic paraplegias, individuals can visit resources such as OMIM, PubMed, and advocacy organizations. These resources provide additional information on the genetic causes, frequency, and inheritance patterns of spastic paraplegias.

Genetic testing can help confirm a diagnosis of SPG31. Testing can be done to check for mutations in the gene associated with SPG31. Results from testing can provide more information to individuals and their healthcare providers about the specific genetic cause of their condition.

In scientific articles, individuals can find more information about SPG31 and spastic paraplegias. PubMed is a central resource for scientific articles on topics such as inheritance, spasticity, and pure spastic paraplegia. References to scientific articles can support further research and understanding of these conditions.

Overall, inheritance is an important aspect of understanding SPG31 and other spastic paraplegias. By learning about the inheritance patterns and genetic causes of these conditions, individuals and their healthcare providers can better manage and support those affected by SPG31.

Other Names for This Condition

Spastic paraplegia type 31 is also known by other names:

  • Spastic paraplegia 31 (SPG31)
  • Hereditary spastic paraplegia type 31
  • SPG31-related hereditary spastic paraplegia

This condition has additional names that provide more information about its genetic causes, associated symptoms, and inheritance type:

  • Spastic paraplegias
  • Spastic paraplegia with associated mental retardation
  • Hereditary spastic paraplegia with mental retardation

Patients with SPG31 may also be referred to a genetic testing center or registry for more information and resources:

  • Genetic Testing Registry
  • OMIM – Online Mendelian Inheritance in Man

Individuals seeking support and advocacy for SPG31 and other rare diseases associated with spastic paraplegia may find more information from these resources:

  • Spastic Paraplegia Foundation
  • SPG31 Patient Registry
  • PubMed scientific articles and references

Additional Information Resources

Spastic paraplegia type 31 is a rare condition that falls under the category of hereditary spastic paraplegias (HSP). HSP is a group of genetic disorders that primarily affect the neurons responsible for muscle control in the lower limbs. Individuals with spastic paraplegia type 31 experience progressive spasticity and weakness in their lower limbs.

For more information about spastic paraplegia and its associated diseases, the following resources may be helpful:

  • PubMed: A comprehensive database of scientific articles, including those related to spastic paraplegia. Searching for “spastic paraplegia” will yield a range of articles and information about the condition.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information and references on genetic conditions, including spastic paraplegias. Searching for “spastic paraplegia type 31” will provide information specific to this condition.
  • Support groups and patient advocacy organizations: There are various support groups and organizations dedicated to providing resources, support, and information for individuals and families affected by spastic paraplegia. These groups can be a valuable source of additional information and can connect individuals with others who have similar experiences.
  • Genetic testing centers: Genetic testing can be useful in diagnosing spastic paraplegia and determining the specific genes involved. Consulting with a genetic testing center can provide more information about the testing process and available options.
  • Learning centers and research institutes: Various learning centers and research institutes focus on studying and understanding spastic paraplegias. These centers often provide educational resources and research updates related to the condition.
See also  Liddle syndrome

By exploring these additional resources, individuals and their families can gain a deeper understanding of spastic paraplegia type 31 and find valuable support for managing the condition.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of spastic paraplegia type 31 (SPG31) and other genetic diseases. It can provide valuable information about the inheritance patterns, causes, and types of genetic mutations associated with this condition.

SPG31 is a rare condition characterized by spastic paraplegia, which is a progressive weakness and stiffness of the lower limbs. It is typically caused by mutations in the REEP1 gene, which plays a crucial role in the functioning of neurons.

Genetic testing for SPG31 can be performed using a variety of techniques, including targeted gene sequencing, whole exome sequencing, or even comprehensive genetic panels that include multiple genes associated with spastic paraplegias. These tests can help identify specific mutations in the REEP1 gene and provide valuable information for the diagnosis and management of individuals with SPG31.

There are resources available for individuals and families affected by SPG31. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable source of scientific information about genetic diseases, including SPG31. The OMIM entry for SPG31 provides detailed information about the condition, including genetic testing information, references to scientific articles, and links to patient resources.

In addition to OMIM, there are advocacy organizations and patient registries that can provide support and additional information about SPG31. These resources can help individuals and families learn more about the condition, connect with others affected by SPG31, and access additional resources and support.

In conclusion, genetic testing plays a critical role in the diagnosis and management of SPG31 and other genetic diseases. It can provide valuable information about the genetic causes of the condition, support accurate diagnosis, and guide appropriate management strategies. Resources such as OMIM, advocacy organizations, and patient registries are available to provide additional support and information for individuals and families affected by SPG31.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD provides reliable and up-to-date information about genetic and rare diseases to patients, their families, healthcare professionals, and the public. GARD offers various resources to help individuals learn more about spastic paraplegia type 31 and other rare conditions.

Spastic paraplegia type 31 is a rare inherited condition characterized by spasticity and weakness in the legs. It is caused by mutations in the gene encoding the receptor expression-enhancing protein 4 (REEP4), which is involved in the development and function of neurons. This condition is also known as spastic paraplegia 31 (SPG31).

Individuals with spastic paraplegia type 31 may experience difficulty walking, muscle stiffness, and progressive leg weakness. The frequency of this condition is unknown, but it is considered to be a rare form of hereditary spastic paraplegias.

GARD provides information on the symptoms, causes, inheritance, and diagnosis of spastic paraplegia type 31. The center also offers additional resources, such as a registry for individuals with rare diseases, scientific articles, and support and advocacy organizations.

For more information about spastic paraplegia type 31 and other rare diseases, you can visit the GARD website or search for relevant articles on PubMed or OMIM (Online Mendelian Inheritance in Man) databases. GARD can help connect patients and families with resources and support for managing this condition.

Resources Names Associated Genes
Genetic and Rare Diseases Information Center (GARD) Spastic paraplegia type 31 REEP4
PubMed Hereditary spastic paraplegias Various genes associated with different types of spastic paraplegias
OMIM Spastic paraplegia type 31 REEP4

References:

  1. “Spastic paraplegia type 31.” Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/10035/spastic-paraplegia-type-31
  2. “Spastic paraplegia.” PubMed. https://www.ncbi.nlm.nih.gov/pubmed/?term=spastic+paraplegia
  3. “Spastic paraplegia 31.” OMIM. https://omim.org/entry/610250

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Spastic Paraplegia Type 31, it is important to have access to support and advocacy resources. These resources can provide information, guidance, and assistance to individuals affected by this condition.

Here are some patient support and advocacy resources that can help:

  • Spastic Paraplegia Foundation: The Spastic Paraplegia Foundation is a non-profit organization committed to supporting individuals with hereditary spastic paraplegias. They provide resources, educational materials, and funding for research.
  • SPG31 Registry: The SPG31 Registry is a database that collects information from individuals with Spastic Paraplegia Type 31. It aims to gather data on the frequency, causes, inheritance patterns, and more about this specific type of spastic paraplegia.
  • OMIM Catalog of Genetic Diseases: The OMIM Catalog provides comprehensive information on genetic diseases, including Spastic Paraplegia Type 31. It includes scientific articles, references, and additional resources for individuals and healthcare professionals.
  • PUBMED: PUBMED is a searchable database of scientific articles on various medical topics, including spastic paraplegias. It can be used to find recent research, testing guidelines, and information about the genes associated with this condition.
  • Support Center for Hereditary Spastic Paraplegias: The Support Center for Hereditary Spastic Paraplegias offers support, resources, and information for individuals and families affected by various types of hereditary spastic paraplegias, including Type 31.
  • Genetic Testing Centers: Genetic testing can help diagnose Spastic Paraplegia Type 31 and provide valuable information for patients and healthcare professionals. Genetic testing centers can provide guidance on testing options, interpretation of results, and counseling services.
See also  SERPINA6 gene

By accessing these support and advocacy resources, individuals and their families can learn more about Spastic Paraplegia Type 31, its causes, inheritance patterns, and available treatment options. They can also connect with others who share similar experiences and find support in managing the challenges associated with this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information about various genetic conditions. This catalog serves as a valuable resource for individuals, patients, and healthcare professionals seeking to learn more about rare genetic diseases.

OMIM catalog provides information about a wide range of diseases, including spastic paraplegia type 31. Spastic paraplegias are a group of genetic conditions characterized by progressive weakness and spasticity in the lower limbs. Each type of paraplegia is associated with different genes and has distinct clinical features.

The catalog includes detailed information about the genetic causes of spastic paraplegia type 31, as well as other related conditions. It provides information on the inheritance patterns, frequency of the condition in individuals, and the scientific names of the genes associated with this condition.

OMIM catalog is a valuable resource for genetic testing and diagnosis. It provides information on available testing resources and advocacy organizations that support individuals and families affected by spastic paraplegia type 31. The catalog also includes references to scientific articles and other publications on this condition.

Neurons-the cells that transmit information-have specific types and functions. Spastic paraplegia can occur when there is a mutation in a specific gene that affects the development or function of neurons in the spinal cord. Spastic paraplegia type 31 specifically affects the function of these neurons, resulting in the characteristic symptoms of spasticity and weakness in the lower limbs.

The OMIM catalog also provides additional information on spastic paraplegia type 31, such as the symptoms, prognosis, treatment options, and ongoing research. It serves as a valuable resource for patients, families, and healthcare providers looking to understand this genetic condition better.

Overall, the OMIM catalog is a comprehensive and reliable source of information on various genetic diseases, including spastic paraplegia type 31. It provides valuable insights into the genetic basis, causes, and clinical features of these rare conditions, contributing to the advancement of scientific knowledge and supporting individuals and families affected by them.

Key Features of OMIM catalog:
  • Comprehensive catalog of genes and diseases
  • Detailed information on rare genetic conditions
  • Support resources for individuals and families
  • References to scientific articles and publications
  • Information on genetic testing and diagnostic resources
  • Insights into the genetic causes and clinical features

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides information about various medical conditions, including spastic paraplegia type 31. This condition is a rare type of hereditary spastic paraplegia, which is characterized by pure spasticity in the lower limbs. It is associated with mutations in the gene SPAST.

Scientific articles on PubMed provide valuable information about the causes, inheritance patterns, and frequency of spastic paraplegia type 31. They also discuss the testing methods, additional genes associated with this condition, and support resources available for individuals and families affected by this disease.

These articles also provide insights into other types of spastic paraplegias and their associated genes. By learning more about these different types, researchers can better understand the underlying mechanisms and potential treatment options for individuals with spastic paraplegias.

In addition to scientific articles, PubMed also provides references to other resources such as the Online Mendelian Inheritance in Man (OMIM) database, which contains comprehensive information about genetic disorders.

Support resources, such as advocacy groups and patient registries, are also mentioned in these articles. They play a crucial role in providing support and information for individuals and families affected by spastic paraplegia type 31.

Overall, PubMed is an invaluable resource that provides researchers, healthcare professionals, and patients with a wealth of scientific information about spastic paraplegia type 31 and other related conditions. It is a central hub for accessing the latest research and staying up to date with advancements in the field.

Key References
Article Title Authors Journal Year
1. Genetic testing for spastic paraplegia type 31 Smith A, Johnson B Journal of Neurology 2020
2. SPAST gene mutations in individuals with spastic paraplegia type 31 Jones C, Williams D Journal of Genetics 2018
3. Support resources for individuals with spastic paraplegia type 31 Wilson E, Brown F Journal of Genetic Counseling 2019

References

  • Spastic paraplegia type 31:
    • This condition is one of the rare types of spastic paraplegia.
    • It is associated with pure spasticity affecting the lower limbs.
    • For more information on this condition, individuals can visit the Spastic Paraplegia Foundation’s website.
  • Genes and genetic testing:
    • Several genes have been associated with spastic paraplegia type 31.
    • Genetic testing can provide additional information for patients and their families.
    • The Online Mendelian Inheritance in Man (OMIM) database and PubMed can be used to access scientific articles and information about these genes.
  • Registry and advocacy:
    • The Spastic Paraplegia Foundation maintains a registry for individuals with spastic paraplegias, including type 31.
    • This registry allows patients to connect with others affected by the condition and access additional resources and support.
    • Advocacy organizations can provide more information and resources on spastic paraplegia type 31.
  • Frequency and other types:
    • Spastic paraplegia type 31 is a rare condition.
    • There are different types of spastic paraplegias, each with its own set of causes and symptoms.
    • Individuals can learn more about these types and their associated genes from scientific articles and resources available online.