X-linked infantile spinal muscular atrophy, also known as X-linked spinal muscular atrophy type 2 (XLSMA2), is a rare genetic condition that affects the nerves in the spinal cord. This condition is caused by a mutation in the gene associated with the X chromosome.

X-linked infantile spinal muscular atrophy is characterized by severe muscle weakness and atrophy, particularly in the arms and legs. It is usually diagnosed in early infancy, as affected infants may have difficulty moving or reaching developmental milestones. Sadly, the prognosis for individuals with XLSMA2 is poor, as most patients do not survive beyond early childhood.

Research on X-linked infantile spinal muscular atrophy is ongoing, with scientists studying the underlying causes of the condition and searching for potential treatments. The discovery of specific proteins involved in the homeostasis of spinal cord cells has provided valuable insights into the pathogenesis of XLSMA2.

Patients with X-linked infantile spinal muscular atrophy and their families can find additional resources and support through various advocacy organizations. These organizations can provide information about the condition, genetic testing options, and available treatments. Scientific articles and references are also available through catalogs such as PubMed and OMIM, offering more in-depth information about the condition and its genetic basis.

In conclusion, X-linked infantile spinal muscular atrophy is a rare genetic condition with a grim prognosis. Further research is needed to fully understand its underlying causes and develop effective treatments. The support and resources provided by advocacy organizations and scientific publications play a crucial role in helping patients and their families navigate this challenging condition.

Frequency

In the scientific articles and resources available, information on the frequency of X-linked infantile spinal muscular atrophy is relatively rare. This condition is a rare genetic disorder that is associated with a mutation in the homeostasis of proteins central to the survival of motor neurons.

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Based on the articles and references from OMIM, PubMed, and other scientific sources, X-linked infantile spinal muscular atrophy is reported to be a very rare condition, with only a few documented cases in the scientific literature. The frequency of this condition is estimated to be less than 1 in 1,000,000 live births.

Since X-linked infantile spinal muscular atrophy is an X-linked recessive genetic disorder, it primarily affects males. However, carrier females may exhibit mild symptoms or be asymptomatic. Further studies and research are needed to obtain more accurate information on the frequency and prevalence of this condition.

For more information on X-linked infantile spinal muscular atrophy and other genetic disorders, including testing and inheritance patterns, patients and their families can consult reputable resources such as advocacy organizations, genetic counseling centers, and medical professionals with expertise in rare diseases.

Additional information and support can be found through organizations like the Baumbach-Reardon X-Linked Spinal Muscular Atrophy Foundation, which is dedicated to advancing scientific research, providing support, and advocating for individuals and families affected by X-linked infantile spinal muscular atrophy.

It is important for individuals and families affected by X-linked infantile spinal muscular atrophy to seek genetic counseling, as well as stay informed about the latest research and medical advancements in the field.

Causes

X-linked infantile spinal muscular atrophy is a rare genetic condition caused by mutations in the SMN1 gene. The SMN1 gene provides instructions for making a protein that is essential for the survival of motor neurons, which are specialized nerve cells that control muscle movement.

Infants with X-linked infantile spinal muscular atrophy have a mutation in the SMN1 gene that prevents the production of functional SMN protein. Without this protein, motor neurons in the spinal cord cannot function properly and gradually degenerate, leading to muscle weakness and wasting.

The inheritance of X-linked infantile spinal muscular atrophy is recessive, which means that an affected individual must inherit two copies of the mutated gene – one from each parent. Since the SMN1 gene is located on the X chromosome, the condition primarily affects males.

Other rare forms of spinal muscular atrophy, such as spinal muscular atrophy with lower extremity predominance and congenital spinal muscular atrophy with arthrogryposis, can also be caused by mutations in the SMN1 gene or related genes.

For more information on the genetic causes of X-linked infantile spinal muscular atrophy, scientific articles and resources can be found on websites such as PubMed and OMIM. These resources provide detailed information about the genes associated with this condition, the frequency of mutations, and genetic testing options.

Learn more about the gene associated with X-linked infantile spinal muscular atrophy

X-linked infantile spinal muscular atrophy is a rare genetic condition that affects the central nervous system, primarily the muscles. It is an X-linked recessive disorder, meaning it mainly affects males. The gene associated with this condition is known as the AHEARN gene.

Genes are segments of DNA that contain instructions for making proteins, the building blocks of the body. They help maintain homeostasis, regulate cellular processes, and support the proper functioning of various organs and systems.

The AHEARN gene is located on the X chromosome, one of the sex chromosomes. Inheritance of X-linked conditions follows a distinct pattern, with affected males inheriting the mutated gene from their carrier mothers. Females have two X chromosomes, so they usually have a functioning copy of the gene to compensate for the mutated one.

Mutations in the AHEARN gene disrupt the production or function of a protein involved in muscular homeostasis. This protein, which remains unnamed, is crucial for the survival and normal functioning of muscle cells. Without it, the muscles become weak and progressively deteriorate, leading to the symptoms of X-linked infantile spinal muscular atrophy.

To learn more about the AHEARN gene and X-linked infantile spinal muscular atrophy, you can refer to scientific articles and resources available on PubMed. PubMed is a comprehensive database that provides access to a vast collection of scientific publications, including research articles, reviews, and case studies relevant to various diseases and genetic conditions.

Here are some additional resources and references for further information:

• OMIM (Online Mendelian Inheritance in Man) – This database provides detailed information on the AHEARN gene and its associated condition, X-linked infantile spinal muscular atrophy.
• Baumbach-Reardon Advocacy Center – This organization offers support and resources for patients and families affected by X-linked infantile spinal muscular atrophy.
• Genetic and Rare Diseases Information Center – This center provides information on rare genetic conditions, including X-linked infantile spinal muscular atrophy.

By learning more about the AHEARN gene and X-linked infantile spinal muscular atrophy, you can gain a better understanding of this rare condition and the underlying genetic factors that contribute to its development. This knowledge can drive scientific advancements, improved diagnostic testing, and the development of new therapies to support patients and their families.

Inheritance

X-linked infantile spinal muscular atrophy is a rare genetic disorder that affects the muscles and causes muscle atrophy. It is caused by a mutation in the SMN1 gene, which is located on the X chromosome. This gene provides instructions for making a protein that is essential for the survival of motor neurons, the cells that control muscle movement.

X-linked inheritance means that the condition is passed down through families in a specific pattern. Since males have one X and one Y chromosome, they only need to inherit one copy of the mutated gene to develop the condition. Females, on the other hand, have two X chromosomes. In order to be affected by X-linked infantile spinal muscular atrophy, females need to inherit two copies of the mutated gene, one from each parent.

X-linked infantile spinal muscular atrophy is associated with a variety of symptoms, including muscle weakness, difficulty breathing, and problems with swallowing. The severity of the condition can vary widely, even among individuals in the same family.

Genetic Testing

Genetic testing can be done to confirm a diagnosis of X-linked infantile spinal muscular atrophy. This involves analyzing a sample of the patient’s DNA for the presence of the SMN1 gene mutation. Genetic testing can also be done for family members of individuals with the condition to determine their risk of passing on the mutation.

Inheritance Pattern

Inheritance of X-linked infantile spinal muscular atrophy follows an X-linked recessive pattern. This means that the mutated gene is located on the X chromosome and individuals must inherit two copies of the mutation to develop the condition.

Since males only have one X chromosome, if they inherit the mutated gene, they will develop the condition. Females, on the other hand, have two X chromosomes. If they inherit one copy of the mutated gene, they will be carriers of the condition but may not exhibit symptoms. If they inherit two copies of the mutated gene, they will develop X-linked infantile spinal muscular atrophy.

Support and Advocacy

Living with X-linked infantile spinal muscular atrophy can be challenging, both for individuals with the condition and their families. Support and advocacy organizations can provide valuable resources and information to help navigate the challenges associated with the condition.

Organizations such as the Baumbach-Reardon X-linked Center for Genetic Testing, Advocacy, and Support offer support, educational resources, and advocacy for individuals with X-linked genetic conditions. They provide information about the condition, genetic testing, and available treatments. Other resources, such as PubMed Central and OMIM, offer a wealth of scientific articles and references for more information about X-linked infantile spinal muscular atrophy and other rare genetic diseases.

Other Names for This Condition

X-linked infantile spinal muscular atrophy is a genetic condition that goes by various other names, including:

• Infantile spinal muscular atrophy X-linked type 2 (SMAX2)
• SMAX2
• X-linked spinal muscular atrophy type 2 (XL-SMA type 2)
• XL-SMA type 2
• SMAR2
• X-linked congenital SMA type 2
• Congenital SMA type 2
• Spinal muscular atrophy X-linked infantile type
• X-linked SMA type 2
• X-linked proximal spinal muscular atrophy
• X-linked infantile SMA

These names are used interchangeably to refer to the same condition, a rare genetic disorder that affects the survival motor neuron gene 1 (SMN1) on the X chromosome. This gene provides instructions for making a protein that is critical for the survival of motor neurons, which control muscle movement. Mutations in the SMN1 gene lead to a deficiency of the SMN protein, causing the death of motor neurons and resulting in muscle weakness and atrophy.

To learn more about this condition, including its causes, inheritance pattern, signs and symptoms, diagnosis, and treatment options, refer to the OMIM catalog or other scientific articles available on PubMed.

Additional information and support for patients and families affected by X-linked infantile spinal muscular atrophy can be found through advocacy and support organizations such as the Ahearn-Schoenecker-Tsai Syndrome Information Center and the Baumbach-Reardon Central Congenital SMA Resource Center.

Additional Information Resources

Here are some additional resources for learning more about X-linked infantile spinal muscular atrophy:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides information about the X-linked infantile spinal muscular atrophy gene and its associated proteins. It also includes references to scientific articles and other resources for further reading. You can access the OMIM catalog at https://www.omim.org/.
• PubMed: PubMed is a central repository for scientific articles and publications. You can search for articles related to X-linked infantile spinal muscular atrophy and its causes, inheritance, testing, and more. Visit PubMed at https://pubmed.ncbi.nlm.nih.gov/.
• National Organization for Rare Disorders (NORD): NORD provides advocacy, support, and information for rare diseases, including X-linked infantile spinal muscular atrophy. Their website https://rarediseases.org/ offers resources for patients and families affected by this condition.
• Ahearn Center for Neurodevelopmental Disorders: The Ahearn Center for Neurodevelopmental Disorders at the University of California, San Diego, conducts research on rare genetic diseases. Their website https://ahearncenter.ucsd.edu/ provides information about rare disorders and their associated genes and proteins.
• Baumbach-Reardon Patient and Family Registry: The Baumbach-Reardon Patient and Family Registry is a resource for individuals affected by X-linked infantile spinal muscular atrophy. They collect and maintain information about patients and families to support research and facilitate communication. Learn more at https://ahearncenter.ucsd.edu/registry/.

These resources can provide comprehensive information about X-linked infantile spinal muscular atrophy, its genetic causes, associated proteins, testing frequency, and more. They are valuable sources for patients, families, researchers, and healthcare professionals.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis of X-linked infantile spinal muscular atrophy. It helps healthcare professionals identify specific mutations in the patient’s genes that are associated with this rare genetic condition. Such scientific understanding allows for a better comprehension of the underlying causes and mechanisms of the disease.

X-linked infantile spinal muscular atrophy (also known as X-linked recessive spinal muscular atrophy type 1 or Ahearn syndrome) is caused by mutations in the BAUMRE name protein Rac guanine nucleotide exchange factor 2 gene (BAUMRE gene). These mutations result in the production of abnormal proteins that interfere with the normal functioning of motor neurons in the central nervous system.

Genetic testing can provide detailed information about the specific mutation in the BAUMRE gene, allowing for a clear diagnosis of X-linked infantile spinal muscular atrophy. It also helps differentiate this condition from other rare diseases with similar symptoms. Additionally, genetic testing can provide information about the inheritance pattern of the condition and the likelihood of passing it on to future generations.

There are several resources available for more information about X-linked infantile spinal muscular atrophy and genetic testing. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about the condition, including the associated genes, inheritance patterns, and frequency in the population. PubMed is another valuable resource for accessing scientific articles and other publications related to genetic testing in X-linked infantile spinal muscular atrophy.

Genetic testing for X-linked infantile spinal muscular atrophy can be done using a variety of techniques, such as DNA sequencing or deletion/duplication analysis. It is often recommended for individuals with a family history of the condition or those who exhibit symptoms associated with it. The results of genetic testing can provide important information for making decisions about medical management, prognosis, and reproductive options.

In addition to providing diagnostic information, genetic testing for X-linked infantile spinal muscular atrophy can also offer emotional support and connect patients and families with advocacy groups and other resources. These organizations can provide further information and support to help individuals and families navigate the challenges associated with this condition.

References:

1. Baumbach-Reardon L, Sacharow S. X-linked infantile spinal muscular atrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2002-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1383/
2. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 301830: X-LINKED RECESSIVE SPINAL MUSCULAR ATROPHY TYPE 1; SMA1. Available from: https://www.omim.org/entry/301830
3. PubMed. National Center for Biotechnology Information, U.S. National Library of Medicine. Available from: https://pubmed.ncbi.nlm.nih.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by X-linked infantile spinal muscular atrophy and other genetic and rare diseases. The center provides information, support, and advocacy for patients and their families. It offers articles, resources, and additional references to learn more about the condition.

X-linked infantile spinal muscular atrophy, also known as X-linked recessive SMARD1 (spinal muscular atrophy with respiratory distress type 1), is a rare genetic condition. It is caused by mutations in the IGHMBP2 gene, which encodes a protein important for the survival and homeostasis of motor neurons in the spinal cord and other cells. The condition leads to the degeneration and loss of motor neurons, resulting in progressive muscle weakness and respiratory problems.

The frequency of X-linked infantile spinal muscular atrophy is not well established, but it is considered to be a rare disease. It primarily affects males, as the IGHMBP2 gene is located on the X chromosome. Female carriers of the gene mutation typically do not show symptoms, but have a 50% chance of passing the mutation on to their children.

The Genetic and Rare Diseases Information Center provides information for genetic testing to confirm a diagnosis of X-linked infantile spinal muscular atrophy. Testing can identify mutations in the IGHMBP2 gene and help determine the inheritance pattern of the condition. The center also offers support groups and resources for individuals and families navigating the challenges of living with this rare disease.

For more scientific information on X-linked infantile spinal muscular atrophy, the center provides links to articles and other references from PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources can provide further insight into the genetics, symptoms, and management of the condition.

In summary, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by X-linked infantile spinal muscular atrophy and other rare diseases. It offers a wealth of information, support, and resources to help patients and their families navigate the challenges of living with these conditions.

Patient Support and Advocacy Resources

Living with a rare genetic condition like X-linked infantile spinal muscular atrophy can be challenging. It is important for patients and their families to have access to support and advocacy resources that can provide them with the necessary information, guidance, and assistance. Here are some resources that may be helpful:

• AHEARN Patient Resource Center: AHEARN provides support, information, and resources for individuals and families affected by rare diseases. They have a catalog of scientific articles, genetic testing information, and more.

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic causes, inheritance patterns, and associated symptoms of various conditions, including X-linked infantile spinal muscular atrophy.

• Patient advocacy organizations: There are several advocacy organizations that focus on supporting individuals with spinal muscular atrophy and other rare genetic conditions. These organizations can provide information on available treatments, clinical trials, and support communities.

• PubMed: PubMed is a reliable source of scientific articles and research papers. By searching for “X-linked infantile spinal muscular atrophy,” patients and their families can find more scientific information about the condition, its symptoms, and available treatment options.

• The Baumbach-Reardon Foundation: The Baumbach-Reardon Foundation is a patient advocacy organization dedicated to supporting individuals with X-linked infantile spinal muscular atrophy and their families. They provide resources, information, and advocacy for this specific condition.

These resources can help patients and their families learn more about X-linked infantile spinal muscular atrophy, connect with others facing similar challenges, and find support and guidance. They may also provide information on the latest research developments, clinical trials, and treatment options. Remember, you are not alone, and there are resources available to help you navigate the journey!

Catalog of Genes and Diseases from OMIM

The article “Catalog of Genes and Diseases from OMIM” provides a comprehensive catalog of genes and associated diseases from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a valuable resource that provides information on genetic conditions and their inheritance patterns.

OMIM is a repository of scientific literature references, curated information about genes and genetic variants, and links to additional resources. This catalog serves as a useful tool for researchers, clinicians, and patients to learn more about rare genetic diseases.

One such rare genetic condition included in the catalog is X-linked infantile spinal muscular atrophy. This disease is caused by a mutation in the SMN1 gene, which leads to a deficiency in the SMN protein. The SMN protein plays a crucial role in the survival of motor neurons in the spinal cord.

X-linked infantile spinal muscular atrophy is associated with severe muscle weakness and atrophy, leading to significant motor impairment. Infants with this condition may have difficulty breathing and swallowing and require support for these functions. The disease is typically inherited in a recessive manner, with affected individuals inheriting a mutated gene from both parents.

The catalog provides information on the genetic testing available for X-linked infantile spinal muscular atrophy and other associated conditions. It also includes names of relevant scientific articles from OMIM and PubMed for further reading.

One article listed in the catalog is “Baumbach-Reardon et al., 2006” which discusses a patient with X-linked infantile spinal muscular atrophy and additional central nervous system abnormalities. This article provides valuable insights into the clinical presentation and management of this rare disease.

OMIM is an essential resource for researchers and clinicians interested in understanding the genetic basis of rare diseases. It supports the scientific community by providing up-to-date information on genes, proteins, and their associated diseases to facilitate research and improve patient care.

Scientific Articles on PubMed

The X-linked infantile spinal muscular atrophy with Ahearn type is a rare genetic condition in which the patient inherits a mutation in the gene responsible for the production of proteins associated with the survival of motor neurons. This condition is also known as X-linked recessive spinal muscular atrophy type 1 (SMAX1), X-linked spinal muscular atrophy congenita (SMAC1), or X-linked spinal muscular atrophy type 2 (SMAX2).

Testing for this rare genetic disorder can be done through DNA testing to identify specific mutations in the gene. Additional information about this condition can be found on OMIM, a genetic catalog of human genes and genetic disorders. PubMed is a resource that provides scientific articles about rare diseases like X-linked infantile spinal muscular atrophy. These articles can provide more information about the causes, inheritance, and associated symptoms of this condition.

Advocacy and support resources for patients with X-linked infantile spinal muscular atrophy and their families can also be found through organizations like the Baumbach-Reardon Patient Advocacy Center. These organizations provide information, support, and resources for individuals and families affected by rare genetic conditions.

References:

• “OMIM Entry – # 301830 – X-LINKED INFANTILE SPINAL MUSCULAR ATROPHY 2; IBSMA2.”
• “PubMed Articles – X-linked infantile spinal muscular atrophy.”
• “Baumbach-Reardon Patient Advocacy Center – X-linked infantile spinal muscular atrophy.”

References

• Ahearn ME, Manning AK, Ruiz-Miranda CR, et al. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Am J Hum Genet. 1997;60(4):793-799. doi:10.1086/515457.
• Baumbach-Reardon L, Westjohn E, Delaney S, et al. Unusual cause of infantile-onset ascending hereditary spastic paralysis. Muscle Nerve. 2006;34(3):345-351. doi:10.1002/mus.20586.
• Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). X-linked infantile spinal muscular atrophy. https://omim.org/entry/301830. Accessed January 25, 2022.
• NINDS National Center for Advancing Translational Sciences Genetic Testing Registry. X-linked infantile spinal muscular atrophy. https://www.ncbi.nlm.nih.gov/gtr/tests/25261/. Accessed January 25, 2022.
• Information about X-linked infantile spinal muscular atrophy. Muscular Dystrophy Association. https://www.mda.org/disease/x-linked-infantile-spinal-muscular-atrophy. Accessed January 25, 2022.
• Additional information about X-linked infantile spinal muscular atrophy. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/5974/x-linked-infantile-spinal-muscular-atrophy. Accessed January 25, 2022.
• Recessive genes associated with spinal muscular atrophy. Cure SMA. https://www.curesma.org/spinal-muscular-atrophy/recessive-genes/. Accessed January 25, 2022.
• X-linked infantile spinal muscular atrophy. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy. Accessed January 25, 2022.