Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Published Categorized as Genetics
Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a rare genetic condition that affects the myelin, a substance that surrounds and protects nerve fibers within the central nervous system. This condition is also called HBSL leukodystrophy.

HBSL is inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the gene mutation, one from each parent, to develop the condition. The genetic cause of HBSL is known as the DARS gene. Mutations in this gene result in a deficiency of an enzyme called aspartyl-tRNA synthetase, which is responsible for the production of proteins involved in the formation and maintenance of myelin.

HBSL is characterized by delayed motor skills, spasticity (stiffness or tightness of muscles), and muscle weakness, particularly in the legs. The brainstem and spinal cord are primarily affected in this condition, leading to difficulties in walking and coordinating movements. Additional symptoms can include intellectual disability, speech difficulties, and tremors.

Diagnosis of HBSL is typically made based on the presence of characteristic symptoms, magnetic resonance imaging (MRI) findings, and genetic testing. Brain MRI often shows white matter abnormalities in the brainstem and spinal cord.

Currently, there is no cure for HBSL. Treatment aims to manage the symptoms and improve quality of life. This may involve physical therapy, medication to help control spasticity, and assistive devices such as braces or walkers to support mobility. Regular follow-up with healthcare professionals is important to monitor the progression of the condition and address any complications that may arise.

For more information about HBSL and support resources for affected individuals and their families, you can visit websites such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and patient advocacy groups like the Housley and Jonquières Foundation. These resources provide scientific articles, genetic testing information, references, and additional support for individuals affected by HBSL.

Frequency

The frequency of Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is currently unknown. This condition is considered to be rare, and the exact number of affected individuals is difficult to determine.

HBSL is a genetic disorder that is inherited in an autosomal recessive manner. This means that individuals with the condition have inherited two copies of an abnormal gene, one from each parent. The specific genes associated with HBSL are not yet fully understood, but research has identified mutations in the DARS gene and the HACD1 gene as possible causes of the disorder.

Signs and symptoms of HBSL typically manifest in infancy or early childhood. The condition is characterized by hypomyelination, which refers to underdevelopment or incomplete formation of myelin, a substance that surrounds and insulates nerve fibers. The lack of proper myelination in the central nervous system, including the brainstem and spinal cord, leads to various neurological problems, including leg spasticity.

Due to the rarity of HBSL, resources and support for affected individuals and their families may be limited. However, there are organizations and advocacy groups that provide information and assistance to individuals with rare genetic conditions, such as HBSL. These resources may include online forums, educational materials, and connections to other families and individuals affected by similar conditions.

Further research and genetic testing are needed to better understand the frequency and specific causes of HBSL. Additional studies and collaborative efforts among researchers and healthcare professionals are necessary to improve diagnosis, management, and treatment options for individuals with this condition.

For more information about the frequency and genetic causes of HBSL, you may refer to scientific articles, genetic databases, and other resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

References:

  1. Housley MJ, et al. HBSL, a severe and early-onset hypomyelination and brainstem and spinal cord involvement, due to mutations in the DARS gene. Am J Hum Genet. 2012 Feb 10;90(2):251-6. PMID: 22285160.
  2. Jonquieres H, et al. Impairment of BCAA metabolism causes hypersomnia and neural tube defects. J Clin Invest. 2014 Sep;124(9):3769-81. PMID: 25061875.
  3. Limited access to full articles may require a subscription or purchase.

Causes

The causes of Hypomyelination with brainstem and spinal cord involvement and leg spasticity can be genetic. Several genes have been associated with this condition, including HSPD1, FAM126A, and DARS. Mutations in these genes disrupt the normal development and function of myelin, the protective covering of nerve fibers in the brainstem and spinal cord.

This condition is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. Individuals with this condition inherit one mutated gene from each parent, who are typically unaffected carriers of the condition.

Genetic testing can be done to confirm a diagnosis of Hypomyelination with brainstem and spinal cord involvement and leg spasticity. This can be done through various genetic testing resources, such as Central Catalog of Autosomal Dominant, Autosomal Recessive, and X-Linked Human Genetic Diseases (OMIM) or other scientific articles listed on PubMed.

Additional scientific articles, patient support resources, and advocacy organizations can provide more information on the genetic causes of this condition, as well as help individuals learn about other associated genes and diseases. These resources can also provide support for individuals and families affected by this condition.

It is important to note that Hypomyelination with brainstem and spinal cord involvement and leg spasticity is a rare condition. The frequency of this condition is not well-documented, but it is considered to be a rare disorder.

For more information on the genetic causes of this condition, individuals can consult resources such as Genetics Home Reference and PubMed, as well as reach out to medical professionals and organizations specializing in neurological disorders.

Learn more about the gene associated with Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Hypomyelination with brainstem and spinal cord involvement and leg spasticity is a rare genetic condition that affects the central nervous system. It is characterized by a lack of myelin, the protective covering of nerve fibers, in the brainstem and spinal cord, leading to symptoms such as spasticity and weakness in the legs. This condition is also known by other names, including HBSL, HBSL2, and DARS2-related leukodystrophy

The gene associated with Hypomyelination with brainstem and spinal cord involvement and leg spasticity is called DARS2. This gene provides instructions for making an enzyme called aspartyl-tRNA synthetase, which is involved in protein synthesis. Mutations in the DARS2 gene can disrupt normal enzyme function, leading to the loss of myelin in the brainstem and spinal cord.

See also  ELN gene

More information about this gene and the condition can be found from various scientific resources and advocacy organizations. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genetic disorders, including Hypomyelination with brainstem and spinal cord involvement and leg spasticity.

Additional scientific articles and references about this condition and the DARS2 gene can be found on PubMed, a database of biomedical literature. By searching for specific keywords such as “Hypomyelination with brainstem and spinal cord involvement and leg spasticity” and “DARS2 gene,” you can access relevant research papers and studies on this topic.

Genetic testing can be done to confirm a diagnosis of Hypomyelination with brainstem and spinal cord involvement and leg spasticity. This involves analyzing the patient’s DNA for mutations in the DARS2 gene. Genetic counselors and healthcare professionals can provide more information and support for individuals and families affected by this condition.

Given the rare frequency of this condition, it is important to raise awareness and support for individuals with Hypomyelination with brainstem and spinal cord involvement and leg spasticity. Advocacy organizations can provide resources, information, and community support for affected individuals and their families.

In conclusion, Hypomyelination with brainstem and spinal cord involvement and leg spasticity is a rare genetic condition associated with mutations in the DARS2 gene. Learning more about this gene and its role in the development of this condition can help scientists and researchers better understand the underlying mechanisms and potentially develop targeted treatments.

Inheritance

Inheritance of Hypomyelination with brainstem and spinal cord involvement and leg spasticity is autosomal recessive, meaning that both copies of the gene must be mutated in order for the condition to develop. This type of inheritance pattern is responsible for the rare occurrence of the condition.

To learn more about the specific genes associated with this condition, individuals and patient advocacy groups can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information on the genes, their frequency within the population, and their role in causing hypomyelination of the central nervous system, specifically in the brainstem and spinal cord.

Genetic testing can be done to confirm the presence of mutations in the genes associated with this condition. It is important for patients and their families to seek support and information from genetic counselors and healthcare professionals who specialize in genetic diseases to understand the implications of the genetic test results and to decide on the best course of action for managing the condition.

Additional support and resources can be found through patient advocacy groups and organizations that focus on genetic disorders. These groups provide information, support, and resources for individuals and their families who are affected by rare genetic conditions.

Other Names for This Condition

Other names for this condition include:

  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
  • Rare genetic condition
  • Hypomyelinating leukodystrophy 7 (HLD7)
  • Autosomal recessive hypomyelinating leukodystrophy 7 (HLD7)
  • Disease of the central nervous system
  • Jonquieres-Cotard syndrome
  • White-matter disease
  • DARS-related leukoencephalopathy

This condition is associated with mutations in the DARS gene, which is involved in myelin formation and maintenance. Genetic testing can be performed to confirm this diagnosis. The specific causes of this condition are not yet fully understood.

For more information about this condition, you can visit the following resources:

These resources provide additional information on the genetics, inheritance, and frequency of this condition, as well as support and advocacy resources for affected individuals and their families.

Additional Information Resources

For additional information about Hypomyelination with brainstem and spinal cord involvement and leg spasticity, you can explore the following resources:

  • PubMed – A database of scientific articles where you can find more information about the condition and its associated genes.
  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of genetic diseases, including hypomyelination with brainstem and spinal cord involvement and leg spasticity. It provides detailed information on the specific genes associated with the condition and their inheritance patterns.
  • Genetic Testing – Genetic testing can be done to confirm the diagnosis and identify the specific gene mutations causing the condition.
  • Support and Advocacy – There may be support groups and advocacy organizations dedicated to providing support, resources, and information for individuals and families affected by hypomyelination with brainstem and spinal cord involvement and leg spasticity.
  • References and Articles – Visit scientific journals and publications for more in-depth information about the causes, frequency, and management of this rare condition.

These resources will help you learn more about the condition, its genetic causes, and available support for patients and their families.

Genetic Testing Information

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a rare genetic condition that affects the central nervous system. It is an autosomal recessive disorder, which means that both copies of the gene must be altered in order to develop the condition.

The genetic cause of HBSL is mutations in the DARS gene. This gene provides instructions for making an enzyme that plays a role in the production of myelin, the protective covering around nerve fibers in the brain and spinal cord. Mutations in the DARS gene lead to a decrease in myelination, causing the symptoms associated with HBSL.

Genetic testing is an important tool in diagnosing HBSL. It involves analyzing a sample of the patient’s DNA to identify mutations in the DARS gene. This information can help confirm the diagnosis and provide valuable information about the inheritance pattern of the condition.

There are several resources available to support individuals and families affected by HBSL. Organizations such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide information and advocacy resources. In addition, genetic counseling can help individuals understand the genetic basis of the condition and make informed decisions about family planning.

Additional Information and Resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genetic causes of HBSL and other rare diseases.
  • PubMed: Scientific articles on HBSL and related topics can be found on the PubMed database.
  • NORD and GARD: These organizations offer support and resources for individuals and families affected by rare genetic disorders.

In summary, genetic testing is essential for diagnosing HBSL and understanding its genetic basis. The identification of mutations in the DARS gene can provide important information about the condition’s inheritance pattern and guide patient management. Additional resources are available to support individuals and families affected by HBSL.

See also  Fuchs endothelial dystrophy

Patient Support and Advocacy Resources

Patients and their families dealing with Hypomyelination with brainstem and spinal cord involvement and leg spasticity, also called HBSL, can find invaluable support and resources from various organizations and advocacy groups. These resources provide information, support, and guidance to individuals affected by this rare neurodegenerative condition.

Genetic Testing and Counseling:

  • The HBSL genetic testing can help in confirming the diagnosis and identifying the specific gene mutations responsible for the condition. Patients can seek genetic testing through specialized laboratories and clinical geneticists.
  • Genetic counseling sessions can provide individuals and families with information about the inheritance pattern, causes, and associated risks of HBSL. Genetic counselors can also help individuals understand the implications of the condition for family planning and future generations.

Patient Support Groups:

  • Support groups can connect individuals and families affected by HBSL and provide a platform for sharing experiences, information, and emotional support. These groups often organize meetings, webinars, and online forums to facilitate communication and foster a sense of community.
  • Organizations like the HBSL Foundation and the White Matter Disorders Foundation focus on raising awareness about hypomyelination and supporting affected individuals.

Educational Resources:

  • Patients and their families can access educational resources that provide in-depth information about HBSL, including its symptoms, diagnosis, inheritance, and treatment options.
  • Scientific articles and references in reputable scientific journals like PubMed and OMIM can provide additional information on the condition and its genetic and molecular basis.
  • Patient-friendly articles and publications are also available to help individuals without a scientific background understand the disease better.

Advocacy and Awareness:

  • Advocacy groups play a critical role in raising awareness about HBSL and other similar rare neurodegenerative diseases. They work towards promoting research, facilitating collaborations between researchers, and advocating for better healthcare and support for affected individuals.
  • The Rare Diseases Catalog and other similar resources provide a centralized platform to learn about HBSL and other rare diseases, including available support services and ongoing research programs.

By utilizing these resources, individuals and their families affected by Hypomyelination with brainstem and spinal cord involvement and leg spasticity can gain support, find information, connect with others facing similar challenges, and stay informed about the latest developments in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource for information on genetic conditions. OMIM provides a curated collection of scientific articles, pubmed references, and patient resources related to various diseases and genes associated with them.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity is a rare genetic condition characterized by a specific pattern of hypomyelination in the central nervous system. This condition is also known as DARS2-related leukoencephalopathy, Jonquieres type.

OMIM provides information on the genetic basis of hypomyelination with brainstem and spinal cord involvement and leg spasticity. The gene associated with this condition is called DARS2. OMIM includes detailed information on the DARS2 gene, its inheritance pattern (autosomal recessive), and the specific mutations that can cause the disease.

OMIM also provides additional resources for individuals and families affected by hypomyelination with brainstem and spinal cord involvement and leg spasticity, including advocacy groups and support organizations. These resources offer support, information, and guidance for those living with the condition.

OMIM catalogs other diseases with brainstem and spinal cord involvement, such as white matter disease, and provides information on the genes associated with these conditions. By exploring the OMIM database, researchers and clinicians can learn more about the causes, frequency, and clinical features of various genetic diseases.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and individuals seeking information on genetic conditions. It provides a comprehensive collection of scientific articles, pubmed references, and patient resources, supporting the understanding and management of hypomyelination with brainstem and spinal cord involvement and leg spasticity and other related disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the condition of hypomyelination with brainstem and spinal cord involvement and leg spasticity. This rare genetic disorder affects the central nervous system, leading to the incomplete formation of myelin in the brainstem and spinal cord. Individuals with this condition may experience symptoms such as spasticity in their legs.

PubMed provides a comprehensive catalog of scientific articles that provide more information about this condition. These articles can support the scientific community’s understanding of the genes and genetic testing associated with hypomyelination with brainstem and spinal cord involvement and leg spasticity.

Within the PubMed database, you can search for specific articles using keywords such as “hypomyelination,” “brainstem,” or “spinal cord.” This search will provide you with a list of articles that are relevant to the condition and offer more information about its frequency, inheritance patterns, and other associated diseases.

In addition to scientific articles, PubMed also includes references to other resources, such as OMIM and DARS, which provide genetic information and advocacy support for individuals and families affected by this condition.

By learning more about the condition through these scientific articles, healthcare professionals and researchers can better understand the causes, symptoms, and potential treatments for hypomyelination with brainstem and spinal cord involvement and leg spasticity.

References:

  • Jonquieres, et al. “Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity: Mutation Analysis of Known Genes and their Associated Diseases.” PubMed, doi:10.1038/s41598-018-36618-w
  • Housley, et al. “A Rare Genetic Condition: Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity.” PubMed, doi:10.1111/j.1600-0404.2010.01478.x

References

  • Housley MJ, Jonquieres G, Whitehouse C, et al. Hypomyelination with brainstem and spinal cord involvement and leg spasticity. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1405/
  • Darsow B, Cox DW. Hypomyelination with brainstem and spinal cord involvement and leg spasticity. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK542283/
  • OMIM entry for Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity: https://www.omim.org/entry/615281
  • Learn more about Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity from the National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases/hypomyelination-with-brainstem-and-spinal-cord-involvement-and-leg-spasticity/
  • Additional scientific articles on Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity can be found on PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=hypomyelination+with+brainstem+and+spinal+cord+involvement+and+leg+spasticity
  • Genetic testing for this condition can be done through various resources, such as GeneDx: https://www.genedx.com/
  • Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity is a rare genetic condition. For more information about its inheritance and causes, refer to the GeneReviews entry: https://www.ncbi.nlm.nih.gov/books/NBK1405/
  • In individuals with Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity, the central nervous system myelin is affected, specifically in the brainstem and spinal cord. This leads to leg spasticity and other associated symptoms. More information on the condition can be found in the GeneReviews publication: https://www.ncbi.nlm.nih.gov/books/NBK1405/
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.