Spastic paraplegia type 7

Published Categorized as Genetics
Spastic paraplegia type 7

Spastic paraplegia type 7 (SPG7) is a rare genetic condition that causes spastic paraplegia, which is a progressive weakness and stiffness of the muscles in the legs. This condition is associated with mutations in the SPG7 gene, which is responsible for producing the protein paraplegin.

Paraplegin is found in the mitochondria of cells and helps to regulate the production of energy. Mutations in the SPG7 gene lead to a loss of function of paraplegin, which disrupts the normal functioning of cells in the central and peripheral nervous systems. This disruption causes the spasticity and muscle weakness seen in SPG7 patients.

SPG7 is inherited in an autosomal recessive manner, which means that both copies of the SPG7 gene must have a mutation in order for the condition to develop. The frequency of SPG7 is unknown, but it is estimated to be a rare condition. Additional information about SPG7 can be found in scientific articles and resources such as OMIM, PubMed, and the Spastic Paraplegia Center.

Diagnosis of SPG7 can be made through genetic testing, which can identify mutations in the SPG7 gene. This testing can help confirm a diagnosis and provide information about prognosis and inheritance. There is currently no cure for SPG7, but there are treatments available to manage symptoms and support patient quality of life. These treatments may include medications to help with spasticity, physical therapy to strengthen muscles, and occupational therapy to improve daily functioning.

In conclusion, SPG7 is a rare genetic condition that causes spastic paraplegia. It is associated with mutations in the SPG7 gene, which leads to a loss of function of the protein paraplegin and disruption of cellular processes. Genetic testing can be used to diagnose SPG7, and treatment options are available to manage symptoms. Further research and support from advocacy organizations and scientific communities are needed to learn more about SPG7 and develop effective therapies.

Frequency

Spastic paraplegia type 7 (SPG7) is a rare genetic condition, also called hereditary spastic paraplegia (HSP), that affects the nerves in the lower limbs. It is associated with muscle weakness, spasticity, and gait disturbances. SPG7 is one of the many types of spastic paraplegias, which are a group of rare diseases characterized by progressive weakness and spasticity in the lower limbs.

The frequency of SPG7 is not well documented, but it is considered a rare condition. The exact number of people affected by SPG7 is unknown, but it is estimated to affect less than 1 in 1,000,000 individuals globally.

SPG7 is caused by mutations in the SPG7 gene, which provides instructions for making a protein called paraplegin. This protein is involved in the maintenance of the mitochondria, the “powerhouses” of the cells. Mutations in the SPG7 gene impair the function of paraplegin, leading to the degeneration of nerve cells in the spinal cord.

SPG7 can be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Autosomal dominant inheritance means that an individual needs to inherit only one copy of the mutated gene from either parent to develop the condition.

For patients with SPG7, genetic testing is available to confirm the diagnosis. Testing for SPG7 can be done through various genetic testing laboratories and centers. Additional information on SPG7 can be found in scientific articles and genetic databases such as PubMed, OMIM, and Human Gene Mutation Database (HGMD).

Support and advocacy resources for patients with SPG7 and other types of spastic paraplegias can be found through various organizations and patient support groups. These resources provide information and support for individuals and families affected by the condition. The exact frequency of SPG7 within these support groups and advocacy organizations is not known.

In summary, SPG7 is a rare genetic condition that causes spastic paraplegia. It is associated with muscle weakness, spasticity, and gait disturbances. The exact frequency of SPG7 is not well documented, but it is considered a rare condition. Genetic testing and support resources are available for individuals and families affected by SPG7 and other types of spastic paraplegias.

Causes

Spastic paraplegia type 7 (SPG7) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the abnormal gene, one from each parent, in order to develop the condition.

The main cause of SPG7 is a mutation in the SPG7 gene, also known as the paraplegin gene. This gene provides instructions for making a protein called paraplegin, which is involved in the maintenance of nerve cells. When the SPG7 gene is mutated, it leads to a deficiency of paraplegin, which can result in the development of the condition.

In addition to the SPG7 gene mutation, other genetic and environmental factors may also contribute to the development of SPG7. However, these additional causes are not well understood and further research is needed to fully understand their role.

SPG7 is classified as a type of hereditary spastic paraplegia (HSP), a group of neurological disorders characterized by progressive weakness and spasticity in the leg muscles. There are many different types of HSP, each associated with mutations in different genes.

To learn more about SPG7 and other types of hereditary spastic paraplegias, you can visit the Hereditary Spastic Paraplegia Information Page on the National Institute of Neurological Disorders and Stroke (NINDS) website. This page provides information on the symptoms, diagnosis, and treatment of these conditions, as well as links to additional resources and support.

References:

  1. “SPG7 – Spastic Paraplegia 7 (Autosomal Recessive) – Overview.” GeneReviews(®). NCBI Bookshelf, 28 Apr. 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1274/.
  2. “SPG7.” OMIM. Johns Hopkins University, 27 June 2022. Available from: https://www.omim.org/entry/602783.
  3. “Spastic paraplegia type 7.” Orphanet. Rare Diseases and Orphan Drugs, 2013. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100990.
  4. “Hereditary Spastic Paraplegia Information Page.” National Institute of Neurological Disorders and Stroke (NINDS). Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Hereditary-Spastic-Paraplegia-Information-Page.

Learn more about the gene associated with Spastic paraplegia type 7

Spastic paraplegia type 7 (SPG7) is a rare genetic condition that affects the spinal cord and muscles, causing spasticity and paraplegia. It is also known as paraplegin-associated neurodegeneration (PARAPLEGIN or SPG7). SPG7 is one of the many types of hereditary spastic paraplegias (HSP), which are a group of genetic diseases that primarily affect the central nervous system and result in progressive stiffness and weakness in the legs.

The SPG7 gene is responsible for producing a protein called paraplegin, which is involved in the normal functioning of nerve cells in the spinal cord. Mutations in the SPG7 gene can lead to a deficiency or dysfunction of the paraplegin protein, causing the symptoms of SPG7. The exact mechanisms by which these mutations cause the disease are still being studied.

SPG7 is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who carry only one copy of the mutated gene are known as carriers and typically do not show any symptoms.

To learn more about the genetic basis of SPG7 and its associated symptoms, you can visit the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides comprehensive information on genes and genetic conditions, including summaries of scientific articles, the latest research findings, and additional resources for patients and advocacy groups. The OMIM catalog number for SPG7 is 607259.

If you suspect that you or someone you know may have SPG7, genetic testing can be performed to identify mutations in the SPG7 gene. This can be done through specialized genetic testing centers that focus on rare and genetic diseases. The frequency of SPG7 in the general population is not well-established, but it is considered to be a rare condition.

For additional information about SPG7 and other types of hereditary spastic paraplegias, you can also refer to scientific articles on PubMed. PubMed is a database of biomedical literature that contains a wealth of information on various diseases, genes, and genetic disorders.

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References:

  1. “Spastic Paraplegia Type 7” – GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1142/
  2. “Gene Summary – SPG7” – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/SPG7#description

Inheritance

Spastic paraplegia type 7 (SPG7) follows an autosomal recessive pattern of inheritance. This means that the condition is caused by mutations in both copies of the SPG7 gene.

The SPG7 gene provides instructions for making a protein called paraplegin. This protein is involved in the function of mitochondria, which are the energy-producing structures within cells. Mutations in the SPG7 gene result in a shortage or abnormal form of paraplegin. Without enough functional paraplegin, nerve cells in the spinal cord and muscles of the legs are damaged, leading to the signs and symptoms of SPG7.

SPG7 is considered a rare disease, and its frequency in the general population is unknown. However, it is estimated to have a prevalence of 1 to 2 cases per 1 million individuals. SPG7 is one of the pure, or uncomplicated, hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness and contraction (spasticity) in the lower limbs. These conditions are often associated with other signs and symptoms such as weakness, difficulty walking, and muscle wasting (atrophy).

To learn more about the genetics of SPG7, you can consult scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man). OMIM is a catalog of genes and genetic conditions, and it provides information about different types of SPG7 and other related diseases.

For genetic testing and additional information about SPG7, you can contact advocacy and support organizations like the Spastic Paraplegia Foundation. These organizations can provide resources and support for patients and families affected by SPG7.

Resources for SPG7
Organization Website
Spastic Paraplegia Foundation sp-foundation.org
Online Mendelian Inheritance in Man (OMIM) omim.org
PubMed pubmed.ncbi.nlm.nih.gov

References:

  1. Rainier S, et al. Nat Genet. 1993 Mar;3(3):333-6. PMID: 8099023.
  2. Magariello A, et al. Eur J Neurol. 2006 Nov;13(11):1250-2. PMID: 17038029.
  3. Al-Abdulwahed HY, et al. Neurogenetics. 2013 Feb;14(1):27-34. PMID: 23329114.

Other Names for This Condition

  • SPG7
  • Support for families affected by SPG7
  • Central Spastic Paraplegia Type 7
  • Paraplegia, Spastic, 7
  • Ataxia with spastic paraplegia type 7
  • Spastic paraplegia 7
  • SPG7-BRAINDEAD

Spastic paraplegia type 7 (SPG7), also called ataxia with spastic paraplegia type 7, is a rare genetic condition characterized by progressive weakness and spasticity (stiffness and tightness) in the muscles of the lower limbs. It is caused by mutations in the SPG7 gene, which provides instructions for making a protein called paraplegin. This protein is important for the normal function of nerve cells in the spinal cord.

The inheritance pattern of SPG7 is autosomal recessive, which means that both copies of the SPG7 gene in each cell have mutations. Individuals with SPG7 typically have parents who each carry one copy of the mutated gene but do not show signs and symptoms of the condition themselves.

SPG7 is one of many types of hereditary spastic paraplegias (HSPs), a group of genetic disorders characterized by progressive weakness and spasticity of the leg muscles. HSPs are associated with various genes, and each type is classified based on the specific gene involved. SPG7 is a pure, or uncomplicated, form of HSP, meaning that it is not associated with other neurological or intellectual disabilities.

Testing for SPG7 can be done through genetic testing, which looks for mutations in the SPG7 gene. Additional tests to confirm the diagnosis may include electromyography (EMG) and nerve conduction studies. These tests can evaluate the function of the nerves and muscles in the legs.

Unfortunately, there is currently no cure for SPG7. Treatment focuses on managing symptoms and providing support for affected individuals. Physical therapy can help improve mobility and reduce spasticity. Assistive devices such as leg braces and mobility aids may also be beneficial.

For more information about SPG7 and support resources, you may visit the following websites:

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides information on the SPG7 gene and other genes associated with spastic paraplegias. You can find more information about the condition, inheritance patterns, and associated symptoms on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and publications. You can search for articles related to spastic paraplegia type 7 (SPG7) to learn more about the condition, its causes, diagnosis, and treatment options.
  • Genetic Testing: Genetic testing can be done to confirm a diagnosis of spastic paraplegia type 7. The test looks for mutations in the SPG7 gene. This information can be helpful for patients and healthcare professionals to better understand the condition and its management.
  • Support and Advocacy: There are support and advocacy groups dedicated to providing resources and support for individuals with spastic paraplegia and their families. These organizations can provide information, connect you with others in the SPG7 community, and offer support services.
  • Pure Spastic Paraplegias Cohort: The Pure Spastic Paraplegias Cohort is a research project that aims to gather data and information on individuals with various forms of pure spastic paraplegia, including SPG7. Participating in this cohort can contribute to a better understanding of the condition and potential treatment options.
  • Spastic Paraplegin-7 (SPG7) Gene: The SPG7 gene is associated with spastic paraplegia type 7. It is involved in maintaining the health and function of nerve cells in the central nervous system. Mutations in this gene can lead to the development of SPG7.

For more information, references, and articles about SPG7 and other types of spastic paraplegias, please refer to the resources mentioned above.

Genetic Testing Information

Spastic paraplegia type 7 (SPG7) is a rare genetic condition characterized by progressive muscle weakness and stiffness (spasticity) in the lower limbs. It is also known as hereditary spastic paraplegia (HSP) type 7.

This condition is caused by mutations in the SPG7 gene, which provides instructions for making a protein called paraplegin. Paraplegin is involved in the normal function of mitochondria, the energy-producing structures within cells. Mutations in the SPG7 gene lead to a deficiency of paraplegin, resulting in impaired mitochondrial function and the degeneration of nerve cells in the spinal cord.

The inheritance of SPG7 is autosomal recessive, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents carry one copy of the mutated gene, each of their children has a 25% chance of developing SPG7.

Genetic testing can be used to confirm a diagnosis of SPG7. This testing typically involves sequencing the SPG7 gene to look for mutations. It can be done on a blood sample or other DNA-containing cells.

Resources for More Information

  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders. It provides detailed information about the SPG7 gene and associated conditions. Learn more.

  • SPG7 on PubMed: A collection of scientific articles about SPG7 and related topics. PubMed is a database of biomedical literature. Search for articles.

  • Spastic Paraplegia Foundation: An advocacy and support center for individuals and families affected by spastic paraplegias. The foundation provides resources, educational materials, and support networks. Visit the website.

Genetic testing and additional information about SPG7 can be obtained through medical professionals, genetic counselors, and specialized clinics that focus on rare genetic diseases.

Please note that the information provided here is not exhaustive, and there may be additional resources and support available for individuals with SPG7 and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about rare genetic diseases. One such disease is Spastic Paraplegia Type 7 (SPG7), which affects the spinal cord and causes motor impairments.

GARD is a resource center that catalogs information on various rare diseases. It aims to support patients, families, and healthcare professionals by providing up-to-date and accurate information.

SPG7, also known as Paraplegin, is a rare genetic condition that belongs to a group of disorders called hereditary spastic paraplegias (HSP). This condition is caused by mutations in the SPG7 gene, which is involved in nerve cell function.

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Individuals with SPG7 often present with symptoms such as progressive spasticity, weakness, and ataxia (lack of muscle coordination). The severity of the condition can vary among affected individuals.

Scientific articles about SPG7 can be found on PubMed. These articles provide additional information about the condition, its causes, and potential treatments. The association between SPG7 and other genetic conditions is also a topic of scientific research.

Testing for SPG7 involves genetic testing to identify mutations in the SPG7 gene. This can help confirm a diagnosis and provide information about inheritance patterns, as SPG7 can be inherited in an autosomal recessive manner.

Omim is another resource that provides information about genetic diseases. It provides details about the frequency of SPG7 in different populations and includes references to scientific articles.

SPG7 is a complex condition, and additional support may be needed for individuals and families affected by it. Advocacy organizations and support groups can provide resources, support, and a community of individuals going through similar experiences.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for learning about SPG7 and other rare genetic diseases. It offers information on symptoms, causes, testing, and available support. GARD aims to empower individuals and families by providing accurate and reliable information.

Patient Support and Advocacy Resources

For individuals and families affected by Spastic Paraplegia Type 7 (SPG7) and other rare genetic conditions, there are various patient support and advocacy resources available. These resources provide information, support, and guidance to those affected by the condition.

Patient Support Groups:

  • Spastic Paraplegia Foundation: The Spastic Paraplegia Foundation is a non-profit organization dedicated to providing support, education, and resources to individuals and families affected by hereditary spastic paraplegias (HSPs), including SPG7. They offer patient support services, research updates, and community forums.
  • NORD – National Organization for Rare Disorders: NORD is a patient advocacy organization that focuses on rare genetic diseases. They provide information, resources, and support for individuals and families affected by rare conditions, including SPG7.

Scientific and Genetic Resources:

  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive database that provides information on genetic disorders, including SPG7. It includes scientific publications, genetic testing information, and additional resources.
  • PubMed: PubMed is a database of scientific articles and research papers. It can be utilized to find the latest scientific publications on SPG7 and related topics.

Genetic Testing Resources:

  • Genetic Testing Laboratories: There are various genetic testing laboratories that offer testing for SPG7 and other genetic conditions. These laboratories can provide information on the genetic causes of SPG7 and help with genetic counseling.
  • Genetic Counselors: Genetic counselors are healthcare professionals specialized in genetics who can provide information and support to individuals and families seeking genetic testing for SPG7. They can help interpret test results, discuss inheritance patterns, and provide counseling.

Additional Resources:

  • SPG7 Gene Review: The SPG7 Gene Review is a scientific article that provides in-depth information on the SPG7 gene, its associated conditions, and the mechanism of disease.
  • Catalog of Genes and Diseases: The Catalog of Genes and Diseases is a comprehensive resource that provides information on various genes and the diseases they are associated with. It includes information on the SPG7 gene and related conditions.

These patient support and advocacy resources can be a valuable means of support and information for individuals and families affected by SPG7. They can provide a community of support, scientific knowledge, and access to resources that can help navigate the challenges associated with this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and diseases. It provides valuable information on various genetic conditions, including Spastic Paraplegia Type 7 (SPG7).

Spastic Paraplegia Type 7, also known as SPG7, is a genetic condition characterized by progressive spasticity and weakness in the leg muscles. It is one of the many types of hereditary spastic paraplegias. SPG7 is caused by mutations in the SPG7 gene, which encodes a protein called paraplegin.

People with SPG7 may experience symptoms such as spasticity, weakness, ataxia (lack of muscle coordination), and difficulty walking. The condition is typically inherited in an autosomal recessive manner, which means that both copies of the SPG7 gene must be mutated for the disease to manifest.

The OMIM catalog provides information on the genetic causes of SPG7 as well as other related genes. It also offers resources for patient support, scientific articles, and additional references. OMIM can be used to learn more about the condition, its causes, associated symptoms, and inheritance pattern.

One of the main resources available on OMIM is the Genetic Testing Registry, which provides information about laboratories offering genetic testing for SPG7 and other genetic conditions. This registry includes information about the testing methods used, the frequency of testing, and the names of the genes associated with each condition.

OMIM also provides a comprehensive list of scientific articles and references related to SPG7 and other genetic conditions. These articles can be helpful for researchers and healthcare professionals seeking more information about the genetic basis of the disease and potential treatment options.

In summary, OMIM is a valuable resource for those interested in learning more about SPG7 and other genetic conditions. It offers a catalog of genes and diseases, scientific articles, and resources for patient support. By utilizing the information available on OMIM, individuals can gain a better understanding of the genetic causes of SPG7 and how it can be diagnosed and managed.

Scientific Articles on PubMed

Spastic paraplegia type 7 (SPG7) is a rare genetic condition that affects the central nervous system. It is caused by mutations in the SPG7 gene, which is also known as paraplegin. SPG7 is characterized by spasticity and weakness in the muscles of the legs, leading to difficulty with walking and coordination. In addition to spastic paraplegia, some patients with SPG7 may also have other associated symptoms, such as ataxia, pure or complex hereditary spastic paraplegias (HSP), and additional rare genetic diseases.

PubMed is a valuable resource for finding scientific articles on SPG7. It provides access to a wide range of research papers and other scholarly publications on this condition. By searching PubMed, you can learn more about the causes, inheritance patterns, genetic testing, and management of SPG7.

Here are some scientific articles and resources related to SPG7 available on PubMed:

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of diseases, including SPG7. OMIM is a comprehensive resource that includes genetic testing information, clinical descriptions, and references to scientific articles on SPG7.
  • Genetic Testing Registry – The Genetic Testing Registry (GTR) is a centralized database of genetic tests for various conditions, including SPG7. GTR provides information on the availability, frequency, and indications for genetic testing for SPG7, as well as resources for patients and healthcare providers.
  • PubMed Central (PMC) – PubMed Central is a free full-text archive of biomedical and life sciences journal literature. It includes a large collection of scientific articles on SPG7, covering various aspects of the condition, such as clinical features, genetic mechanisms, and treatment options.

References:

  1. Denora PS, Schlesinger D, Casali C, et al. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat. 2009;30(2):E500-E519.
  2. Arnoldi A, Tonelli A, Crippa F, et al. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat. 2008;29(4):522-531.
  3. Elleuch N, Depienne C, Benomar A, et al. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology. 2006;66(5):654-659.

By exploring these scientific articles and resources, you can learn more about the latest research and findings on SPG7, which can be valuable for patient care, advocacy, and further investigation of this condition.

References

  • Genetics Home Reference: Spastic paraplegia type 7
  • OMIM: Spastic paraplegia 7, autosomal recessive
  • PubMed: Articles on spastic paraplegia type 7
  • SPG7 gene: Additional information on the SPG7 gene
  • Advocacy groups: Support and resources for patients with spastic paraplegia
  • Spinal Cord Disorders Information Page: Information on spastic paraplegia and other spinal cord diseases
  • Catalog of Genes and Diseases: More information on genes associated with spastic paraplegias
  • Spastic Paraplegia Research Center: Research and resources on spastic paraplegia
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.