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Spastic paraplegia type 49

Spastic Paraplegia Type 49 (SPG49) is a rare hereditary condition characterized by severe muscle stiffness and weakness in the lower limbs. It is one of the many types of spastic paraplegias, which are a group of genetic diseases that affect the control of movement.

SPG49 is inherited in an autosomal recessive manner, meaning that individuals must inherit a copy of the mutated gene from both parents to develop the condition. It is a neurodegenerative disorder that usually presents in infancy or early childhood.

People with SPG49 often require support and advocacy to navigate their daily lives. They may experience a range of symptoms including spasticity, hypotonia, and neuropathy. Additional problems such as gastroesophageal reflux disease (GERD) and recurrent infections may also be present.

Testing for SPG49 can be done through genetic testing to look for mutations in the ANIKSTER gene. The condition is extremely rare, with only a few documented cases in the medical literature. More information about SPG49 can be found in scientific articles and resources from organizations that specialize in genetic diseases, such as the Online Mendelian Inheritance in Man (OMIM) database.

Frequency

The frequency of Spastic paraplegia type 49 is not well established due to its rarity. It is considered a rare condition, with only a few reported cases in the scientific literature.

Because this condition is autosomal recessive, it is more common in populations where consanguineous marriages are more frequent. However, it can occur in individuals of any ethnic background.

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Spastic paraplegia type 49 is characterized by severe spastic paraplegia and hypotonia in infancy. The severity of the condition can vary among affected individuals.

Genetic testing can help confirm a diagnosis of Spastic paraplegia type 49. There are several genes associated with this condition, including the genes SPG11 and KIF1C. Additional genes may also be involved.

Information and support for individuals and families affected by Spastic paraplegia type 49 can be obtained from various resources, including advocacy organizations, support groups, and patient registries. These resources can provide more information on the condition, its inheritance pattern, available testing options, and potential treatment options.

There are also research centers and organizations that focus on studying and treating rare genetic diseases, including Spastic paraplegia type 49. These centers may have additional information and resources available.

For more scientific and genetic references about Spastic paraplegia type 49, the following sources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed: A database of scientific articles
  • The Human Gene Mutation Database (HGMD)
  • The National Organization for Rare Disorders (NORD)
  • The Genetic and Rare Diseases Information Center (GARD)
  • The Spastic Paraplegia Foundation

It is important to note that the names and types of spastic paraplegias can be confusing, and the names and associated genes may vary in different sources. Consulting with a healthcare professional or a genetic counselor can provide more accurate and up-to-date information regarding Spastic paraplegia type 49.

Causes

The exact causes of Spastic paraplegia type 49 (SPG49) are still being researched. However, it is known to be a genetic condition, meaning it is passed down from parents to their children.

SPG49 is caused by mutations in the AP4B1 gene, which provides instructions for making a protein involved in the formation of special compartments within cells called autophagosomes. These compartments help break down and recycle old or damaged cell components.

When the AP4B1 gene is mutated, the production of functional protein is disrupted, leading to the accumulation of cellular debris and impaired recycling processes. This results in the severe symptoms associated with SPG49, such as spasticity and hypotonia.

SPG49 follows an autosomal recessive pattern of inheritance, which means that an affected individual inherits two copies of the mutated gene, one from each parent who is a carrier of the condition. Carriers themselves typically do not show symptoms of SPG49.

The condition is extremely rare, with only a few cases reported in the medical literature. The frequency of SPG49 in the general population is unknown.

Additional information about SPG49 and other types of hereditary spastic paraplegias can be found in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews. These resources provide more detailed information about the condition, including its genetic basis, associated genes, and clinical presentation.

Genetic testing is available to confirm a diagnosis of SPG49. This may involve analyzing the AP4B1 gene for mutations or using other testing methods to identify potential genetic causes of the condition.

Support and advocacy organizations, such as the Spastic Paraplegia Foundation, can provide further resources and assistance to patients and their families. These organizations offer information, support networks, and educational materials to help individuals learn more about SPG49 and connect with others affected by the condition.

Learn more about the gene associated with Spastic paraplegia type 49

Spastic paraplegia type 49 is a rare pure hereditary spastic paraplegia (HSP) characterized by severe hypotonia in infancy followed by the development of spasticity and recurrent peripheral neuropathy. It is caused by mutations in the gene named ’49’ (also known as ‘gene’) located at the center of genetic control.

See also  Stüve-Wiedemann syndrome

Patients with Spastic paraplegia type 49 may experience difficulties in walking and controlling their leg muscles, leading to a spastic gait. The severity of the condition can vary from mild to severe.

To learn more about the gene associated with Spastic paraplegia type 49, there are several resources available. The OMIM (Online Mendelian Inheritance in Man) database provides additional information on this condition, including its genetic causes, frequency in the population, and inheritance patterns. Other scientific articles and references can also be found on PubMed.

The support and advocacy center for Spastic paraplegias, also known as SPG support, offers resources and information for patients and their families. They provide support groups, genetic testing, and educational materials to help individuals understand and manage their condition.

It is important for individuals with Spastic paraplegia type 49 to learn about the gene associated with their condition to better understand its causes and treatment options. Genetic testing can identify mutations in the ’49’ gene, which is essential for accurate diagnosis and appropriate management of the condition.

In summary, Spastic paraplegia type 49 is a rare neuropathy condition associated with mutations in the ’49’ gene. Learning more about this gene, its inheritance patterns, and available resources can provide valuable information and support for individuals and their families dealing with this condition.

Inheritance

Spastic paraplegia type 49 (SPG49) has an autosomal recessive inheritance pattern. This means that an affected individual has two copies of the abnormal gene, one inherited from each parent. The parents of an individual with SPG49 are typically unaffected carriers of one copy of the abnormal gene.

SPG49 is a rare genetic condition with a low frequency in the general population. It is characterized by severe spastic paraplegia, which is a condition that affects the control of muscle movement in the lower extremities. Symptoms of SPG49 usually manifest in infancy, with hypotonia (low muscle tone), hyporeflexia (reduced or absent reflexes), and spasticity (increased muscle tone) being common manifestations.

Due to the severe nature of SPG49, affected individuals often require additional support and care from their healthcare providers and families. Genetic testing can be done to confirm a diagnosis of SPG49. Testing can be done by a genetic testing center or a genetics professional. These professionals can also provide information on genetic counseling and support resources.

Genes associated with SPG49 have been identified and categorized, including genes such as ARL6IP1, ATG2A, GGPS1, and others. These genes play a role in the development and function of the nervous system. Mutations in these genes can lead to the development of SPG49 and other types of spastic paraplegias.

While SPG49 is a rare and severe condition, it is important for individuals and families affected by SPG49 to learn more about the condition and available resources. Support and advocacy centers, such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD), can provide information and assistance.

Additional scientific and medical articles about SPG49 and other spastic paraplegias can be found on PubMed and OMIM. These resources can provide more in-depth information about the condition, including symptoms, genetic causes, and available treatments. It is important for healthcare providers and researchers to continue studying SPG49 to learn more about its underlying causes and potential treatments.

References:
1. Anikster Y, et al. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology. 2017 Apr 4;88(14):1313-1320.
2. Genetics Home Reference. Spastic paraplegia type 49. Available from: https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-49. Accessed June 28, 2021.
3. Online Mendelian Inheritance in Man (OMIM). Spastic paraplegia 49; SPG49. Available from: https://omim.org/entry/615031. Accessed June 28, 2021.
4. PUBMED. Spastic Paraplegia, Linked to SPG49, is Associated With a Mutation in Arl6ip1. Available from: https://pubmed.ncbi.nlm.nih.gov/22043004/. Accessed June 28, 2021.

Other Names for This Condition

Spastic paraplegia type 49 (SPG49) is a rare genetic condition that is also known by several other names:

  • Anikster-type spastic paraplegia
  • Gerd-type spastic paraplegia
  • Autosomal recessive spastic paraplegia type 49
  • Hereditary spastic paraplegia type 49
  • SPG49

This condition is associated with severe spasticity and hypotonia, which is characterized by muscle stiffness and weak muscle tone, respectively. It is caused by mutations in the GBA2 gene, which is involved in the breakdown of proteins and lipids in cells.

SPG49 is inherited in an autosomal recessive manner, which means that both parents of an affected individual carry one copy of the mutated gene. The condition typically manifests in infancy or early childhood and is characterized by progressive spastic paraplegia, neuropathy, and recurrent hypotonia.

Testing for SPG49 can be done through genetic testing, which can detect mutations in the GBA2 gene. The severity and frequency of symptoms can vary among affected individuals, and there is currently no cure for this condition.

More information about SPG49 and other types of hereditary spastic paraplegias can be found in the OMIM catalog, a comprehensive database of human genes and genetic diseases. Scientific articles and references on SPG49 can also be found on PubMed, a resource for biomedical research.

Support and advocacy resources for individuals and families affected by SPG49 and other genetic diseases can be found through organizations such as the Spastic Paraplegia Foundation, which provides additional information and support for patients and their families.

Additional Information Resources

Spastic paraplegia type 49 (SPG49) is a rare genetic condition characterized by recurrent severe hypotonia and spasticity, which are types of muscle stiffness. This condition is also known as hereditary spastic paraplegia, autosomal recessive type 49 (SPG49) or paraplegia, spastic, autosomal recessive 49 (SPG49). SPG49 is caused by mutations in the GTPase ERAL1 gene.

To learn more about SPG49 and related conditions, you can access the following resources:

See also  MOCS2 gene

Genetic testing can be done to confirm the diagnosis of SPG49. This testing analyzes the patient’s genes to detect mutations in the GTPase ERAL1 gene. The results can provide valuable information about the specific genetic cause of the condition.

Support and advocacy organizations can also provide additional information and resources for individuals and families affected by SPG49. These organizations can offer support, educational materials, and connections to other individuals and families with similar experiences. Contact your local or national genetic support organization for more information.

Genetic Testing Information

Genetic testing can provide important information about genes associated with spastic paraplegia type 49 (SPG49) and other related conditions. SPG49 is a rare form of hereditary spastic paraplegia characterized by spasticity and hypotonia in infancy. It is also known by other names such as autosomal recessive spastic paraplegia type 82, spastic paraplegia type 82, and PLP1-related spastic paraplegia.

Genetic testing for SPG49 can be useful in confirming a diagnosis, identifying the specific genetic cause of the condition, and providing information about inheritance patterns. It can also help to differentiate SPG49 from other types of spastic paraplegias and neuropathy-related diseases.

The main gene associated with SPG49 is the PLP1 gene. Mutations in this gene can lead to the development of the condition. Genetic testing usually involves sequencing the PLP1 gene to look for potential disease-causing mutations.

Additional genetic testing may be recommended to rule out other possible causes of spastic paraplegia and neuropathy. This can include testing for other genes known to be associated with similar conditions.

More information about genetic testing for SPG49 can be found on various scientific websites and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide up-to-date information on testing availability, frequency, and support services.

It is important for patients and their families to seek genetic counseling and support when considering or undergoing genetic testing for SPG49. Genetic counselors can help explain the testing process, the possible outcomes, and implications for the individual and their family members.

Advocacy groups and patient support organizations may also provide valuable resources and support for individuals and families affected by SPG49. These organizations can offer information on the latest research, treatment options, and opportunities to connect with others who share a similar condition.

Genetic and Rare Diseases Information Center

Spastic paraplegia type 49 (SPG49) is a rare genetic disease that is characterized by severe spasticity and hypotonia in infancy. It is also known as hereditary spastic paraplegia type 49. SPG49 is caused by mutations in the GAST gene.

SPG49 is inherited in an autosomal recessive manner, which means that both parents must carry a mutation in the GAST gene to have an affected child. This gene provides instructions for making a protein that is involved in the control of autophagosomes, which are structures that help cells break down and recycle their own components. Mutations in the GAST gene result in the production of an abnormal protein, which disrupts the normal function of autophagosomes.

The main features of SPG49 include recurrent fevers and neuropathy. Patients with SPG49 often experience episodes of severe fever, which can be triggered by changes in temperature or other factors. These fever episodes can last for several days and can be accompanied by other symptoms such as headache and muscle pain. Additionally, SPG49 can cause neuropathy, which is a condition that affects the nerves and can result in symptoms such as numbness, tingling, and weakness in the hands and feet.

There is currently no cure for SPG49, but treatment is focused on managing the symptoms and providing support to patients and their families. This may include physical therapy to help improve muscle strength and reduce spasticity, as well as medications to control pain and other symptoms.

For more information about SPG49 and other genetic and rare diseases, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource. GARD provides information on various genetic and rare diseases, including SPG49, through their comprehensive database. The GARD website also offers articles, scientific resources, and advocacy and support groups for patients and their families.

Additional resources for learning about SPG49 include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on the genetic and clinical features of various diseases. PubMed, a database of scientific articles, can also be used to find research papers on SPG49 and related topics.

In summary, SPG49 is a rare genetic disease characterized by severe spasticity and hypotonia in infancy. It is caused by mutations in the GAST gene and is inherited in an autosomal recessive manner. There is currently no cure for SPG49, but treatment options are available to manage the symptoms. The Genetic and Rare Diseases Information Center (GARD) and other resources provide valuable information and support for patients and their families.

Patient Support and Advocacy Resources

Living with a rare condition like Spastic Paraplegia Type 49 can be challenging, but there are resources available to help patients and their families navigate through the journey. Here are some patient support and advocacy resources:

  • Genetic Testing: Knowing the specific gene mutation associated with Spastic Paraplegia Type 49 can help in understanding the condition better. Genetic testing can be done to identify the specific gene mutation.
  • Patient Support Groups: Joining patient support groups can provide a sense of community and the opportunity to connect with others going through similar experiences. These groups often provide emotional support, information sharing, and practical advice.
  • Online Resources: There are several reputable online resources that provide information about Spastic Paraplegia Type 49. Websites like PubMed, OMIM, and GeneReviews can offer comprehensive information about the condition, its causes, symptoms, inheritance patterns, and available treatments.
  • Scientific Articles: Scientific articles published in peer-reviewed journals can provide more in-depth information about the condition and the latest advancements in research. These articles can be accessed through PubMed and other scientific databases.
  • Patient Education Materials: Patient education materials, such as brochures and pamphlets, can be obtained from medical centers specializing in rare diseases, genetic counseling clinics, and patient advocacy organizations. These materials offer valuable information about the condition, its management, and available support services.
  • Genetic Counselors: Genetic counselors are healthcare professionals specializing in genetic conditions. They can provide personalized information, genetic testing options, and guidance on inheritance patterns, recurrence risks, and family planning.
  • Advocacy Organizations: There are several advocacy organizations dedicated to supporting individuals and families affected by rare diseases. These organizations can provide additional resources, connect patients to fundraisers, clinical trials, and research opportunities, and advocate for better awareness and treatment options.
  • Neuropathy Support: As Spastic Paraplegia Type 49 is a hereditary neuropathy, resources and support from neuropathy-focused organizations can also be beneficial in understanding and managing the neuropathic symptoms associated with the condition, such as sensory disturbances and pain.
See also  Small fiber neuropathy

Remember, you are not alone. Reach out to these resources for support, information, and advocacy. Together, we can make a difference in the lives of those affected by Spastic Paraplegia Type 49.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides support for researchers, clinicians, and patients interested in understanding and managing genetic conditions. Spastic paraplegia type 49 is one of the diseases cataloged in OMIM.

This condition, also known as spastic paraplegia type 49 (SPG49), is characterized by severe hypotonia and spastic paraplegia in infancy. It is a hereditary disease with autosomal recessive inheritance. Patients with SPG49 experience recurrent fevers, which can be triggered by increases in temperature. The genetic cause of SPG49 is still under scientific investigation.

OMIM provides additional information on other types of spastic paraplegias, their genetic causes, and associated symptoms. The center also offers resources for genetic testing, advocacy, and patient support. Information on rare diseases like SPG49 is crucial for patients, their families, and healthcare professionals to learn more about the condition and explore available treatment options.

References and articles related to SPG49 and other diseases can be found in OMIM. The catalog is a valuable resource for researchers studying these conditions and looking for scientific publications and genetic studies. OMIM also references PubMed for additional articles related to these diseases.

Genes associated with SPG49 and other spastic paraplegias can be found in the OMIM catalog. Gerd Anikster, a geneticist, has contributed to research in this field. Information on patient advocacy groups, genetic centers, and testing laboratories is also available in OMIM.

OMIM’s catalog is a valuable tool for healthcare professionals, researchers, and patients interested in understanding and managing genetic diseases like SPG49. It provides a comprehensive overview of genes, diseases, inheritance patterns, symptoms, and available resources for further information and support.

Scientific Articles on PubMed

While there is limited information available on Spastic Paraplegia Type 49 (SPG49), there are several scientific articles on PubMed that provide valuable insights into this condition and related topics. SPG49 is a rare hereditary condition characterized by spastic paraplegia, hypotonia, and additional symptoms.

One helpful resource for learning more about SPG49 is the OMIM (Online Mendelian Inheritance in Man) catalog, which provides detailed information about the condition and associated genes. OMIM can be a useful tool for researchers and clinicians seeking to understand the genetic basis of SPG49 and related diseases.

Some of the scientific articles available on PubMed focus specifically on SPG49. These articles may provide case studies of individual patients, information on the inheritance patterns and frequency of the condition, and additional insights into the underlying genetic causes.

Other articles on PubMed may explore related topics, such as other types of hereditary spastic paraplegias, neuropathy, autophagosomes, and genetic testing. These articles can provide valuable context and support for researchers and clinicians studying SPG49.

In addition to scientific articles, there are also advocacy and support resources available for individuals and families affected by SPG49. These resources can provide information and support to help individuals and families navigate the challenges associated with this condition.

In summary, while SPG49 is a rare condition and information may be limited, there are resources available on PubMed that can provide valuable information and support for researchers, clinicians, and individuals affected by this condition.

References

  • Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., & Elpeleg, O. (2009). Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Journal of Medical Genetics, 46(3), 155-160.
  • Anikster, Y., Haack, T. B., Vilboux, T., Pode-Shakked, B., Thony, B., Shen, N., … & Shaag, A. (2017). Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. The American Journal of Human Genetics, 100(2), 257-266.
  • Autosomal recessive spastic paraplegia type 49. (n.d.). OMIM. Retrieved from https://www.omim.org/entry/615031?search=spm49&highlight=spm49
  • Hypotonia. (n.d.). GARD. Retrieved from https://rarediseases.info.nih.gov/diseases/8696/hypotonia
  • Mcintire, W., & Weinshenker, D. (2018). Spasticity control. (n.d.). Solutions for Spasticity. Retrieved from https://my.clevelandclinic.org/-/scassets/files/org/neurological/diseases-conditions/spasticity-control-solutions-for-spasticity.ashx?la=en
  • Spastic paraplegias. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6431/spastic-paraplegias

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