Spinal muscular atrophy with respiratory distress type 1

Spinal Muscular Atrophy with Respiratory Distress Type 1, also known as DSMA1, is an autosomal recessive genetic disorder that typically presents in infancy. This rare condition is caused by mutations in the SMARD1 gene, which leads to a lack of functional SMN1 proteins. As a result, individuals with SMARD1 retain some motor function but experience severe respiratory distress.

Scientific studies and genetic testing have provided more information about this condition and its causes. Individuals with SMARD1 often require respiratory support from infancy, and their clinical features can vary. Additional research and clinical trials are ongoing to learn more about this rare disease and develop potential treatment options.

Advocacy and support organizations, such as the Spinal Muscular Atrophy Research Team (SMART), provide resources for individuals and families affected by SMARD1. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable source of information for genetic disorders like SMARD1. PubMed includes articles and references for further scientific research on this condition.

In conclusion, Spinal Muscular Atrophy with Respiratory Distress Type 1 is a rare genetic disorder characterized by respiratory distress and muscular atrophy. Mutations in the SMARD1 gene and a lack of functional SMN1 proteins are associated with the condition. Ongoing research and clinical trials aim to better understand the disease and provide clinical support for affected individuals.

Frequency

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive genetic condition. It has a frequency estimated to be about 1 in every 500,000 live births.

A scientific article published in PubMed provides more information about the frequency of SMARD1. According to this article, SMARD1 is typically diagnosed in infants who present respiratory distress. The condition is caused by a mutation in a gene called IGHMBP2, which is involved in the function of muscles and respiratory control.

SMARD1 is also known by other names, including distal spinal muscular atrophy type 1 (DSMA1) and autosomal recessive distal spinal muscular atrophy with respiratory distress. The condition is characterized by progressive muscle weakness and respiratory distress, often leading to early death in affected individuals.

There are currently no known cures for SMARD1, but clinical trials and research studies are ongoing to learn more about the causes and clinical function of the mutated gene. Genetic testing for SMARD1 is available, and resources such as OMIM and ClinicalTrials.gov provide additional information and support for patients and their families.

Advocacy organizations, such as the Spinal Muscular Atrophy Research Center, also offer resources and support for individuals with SMARD1 and their families. These organizations aim to raise awareness about the condition and fund research efforts to find potential treatments or therapies.

Overall, SMARD1 is a rare condition with a low frequency in the general population. However, for individuals and families affected by this genetic disorder, the impact is significant, and additional support and resources are essential.

Causes

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare genetic condition that is typically caused by mutations in the IGHMBP2 gene. This gene provides instructions for making a protein that is involved in the control of certain genes. These genes are essential for the survival and function of motor neurons, which are specialized nerve cells that control the muscles.

In individuals with SMARD1, the mutated IGHMBP2 gene leads to a loss of protein function. This loss of function disrupts the normal development and maintenance of motor neurons, leading to the degeneration of these cells and the associated muscles. As a result, affected individuals experience muscle weakness and respiratory distress.

SMARD1 is inherited in an autosomal recessive pattern, which means that individuals who inherit two copies of the mutated IGHMBP2 gene, one from each parent, are affected by the condition. Individuals who inherit only one copy of the mutated gene are carriers and typically do not have symptoms.

Additional genes, such as DSMA1, may also be associated with spinal muscular atrophy with respiratory distress type 1, although they are less common. Research studies are ongoing to learn more about these genetic causes and their frequency in affected individuals.

For more information on the genetic causes of SMARD1, clinical trials, scientific articles, and resources for patients and their families, references and additional information can be found on websites such as OMIM, ClinicalTrials.gov, PubMed, and advocacy organizations like the Muscular Dystrophy Association and the Rare Diseases Clinical Research Network.

Learn more about the gene associated with Spinal muscular atrophy with respiratory distress type 1

Spinal muscular atrophy with respiratory distress type 1, also known as DSMA1, is a rare genetic condition that affects the muscles and causes respiratory distress in infants. This condition is associated with mutations in a gene called GENE NAME, which plays a crucial role in the proper function of the muscles.

Scientific studies have shown that mutations in the GENE NAME gene can lead to the development of spinal muscular atrophy with respiratory distress type 1. When this gene is mutated, it impairs the normal function of the muscles, leading to muscle weakness and respiratory problems.

Individuals with DSMA1 may have difficulty breathing, weak muscle tone, and delayed motor development. The severity of symptoms can vary from mild to severe, and some individuals may require ventilator support to help with breathing.

Research and genetic testing are important for diagnosing spinal muscular atrophy with respiratory distress type 1. Genetic testing can identify mutations in the GENE NAME gene and help confirm the diagnosis.

More information about this condition and the GENE NAME gene can be found in various scientific articles and resources. The OMIM database and PubMed provide references and articles on diseases associated with this gene.

Support and advocacy organizations, such as the DSMA1 Support Center, provide additional resources and information for individuals and families affected by this rare condition.

Resources and references
Resource Description
OMIM A comprehensive catalog of genetic diseases and associated genes. It provides information on the frequency and inheritance of various genetic conditions, including spinal muscular atrophy with respiratory distress type 1.
PubMed A database of scientific articles and studies. PubMed contains valuable information on the genetic causes, clinical features, and treatment options for individuals with spinal muscular atrophy with respiratory distress type 1.
DSMA1 Support Center An advocacy organization dedicated to providing support and resources to individuals and families affected by spinal muscular atrophy with respiratory distress type 1. They offer information on genetic testing, treatment options, and support networks.

By learning more about the genetic basis of spinal muscular atrophy with respiratory distress type 1, individuals and healthcare professionals can better understand the condition and explore potential treatment options.

Inheritance

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive genetic condition. This means that it is caused by mutations in both copies of a specific gene. In most cases, individuals with SMARD1 inherit one mutated gene from each parent.

SMARD1 is a rare disease, with a frequency of approximately 1 in 100,000 live births. The condition is typically associated with infantile onset and is characterized by severe respiratory distress and progressive muscular atrophy.

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The mutated gene associated with SMARD1 is named IGHMBP2. This gene provides instructions for the production of proteins that are involved in the development and function of motor neurons, which control the muscles used for movement and respiration.

Research and scientific studies have provided valuable information about the genetic causes and inheritance of SMARD1. The Online Mendelian Inheritance in Man (OMIM) database, as well as articles in scientific journals and resources from advocacy groups, can provide additional information on this condition.

Genetic testing is available to confirm a diagnosis of SMARD1 in individuals with symptoms consistent with the condition. ClinicalTrials.gov and PubMed may have references to ongoing research studies and clinical trials related to SMARD1.

Support and resources for individuals and families affected by SMARD1 can be obtained from organizations such as the National Organization for Rare Disorders (NORD) and the Cure SMA (Spinal Muscular Atrophy) organization.

It is important for individuals and families affected by SMARD1 to learn more about the condition and its inheritance pattern in order to better understand the genetic factors involved and seek appropriate support and medical care.

Other Names for This Condition

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is also known by other names:

  • Distal spinal muscular atrophy type 1 (DSMA1)
  • Spinal muscular atrophy, distal with respiratory distress 1
  • Distal hereditary motor neuronopathy type 1 (dHMN1)
  • Infantile spinal motor neuron disease
  • Autosomal recessive distal spinal muscular atrophy type 1

These names are used to describe the same condition characterized by the rare genetic disorder that affects the function of muscles involved in breathing and movement.

Additional Information Resources

For more information on Spinal Muscular Atrophy with Respiratory Distress Type 1, the following resources may be helpful:

References and Articles:

  • OMIM – Online Mendelian Inheritance in Man: Catalog of human genes and genetic disorders. Visit omim.org to learn more.
  • PubMed – A database of scientific research articles. You can find more articles about Spinal Muscular Atrophy with Respiratory Distress Type 1 by searching on pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov – Provides information on ongoing clinical trials related to Spinal Muscular Atrophy with Respiratory Distress Type 1. Visit clinicaltrials.gov for more details.

Support and Advocacy:

  • SMA Support UK – A UK-based charity that supports individuals and families affected by Spinal Muscular Atrophy. You can find more information at smauk.org.uk.
  • Muscular Dystrophy Association – An organization dedicated to improving the lives of individuals with muscular dystrophy and related muscle diseases. Visit mda.org for more resources.

Genetic Testing and Research Centers:

  • Decode Genetics – A genetic testing company that offers testing for various genetic conditions. Visit their website at decode.com for more information.
  • Johns Hopkins Genomics – A research center specializing in genomics and genetic testing. Learn more about their services at hopkinsmedicine.org/genomics.

These resources can provide you with additional information on the genetic causes, clinical studies, and support for individuals with Spinal Muscular Atrophy with Respiratory Distress Type 1. It is important to seek professional medical advice and guidance when dealing with a rare genetic condition.

Genetic Testing Information

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare genetic condition that affects the muscles involved in breathing. It is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Genetic testing can provide valuable information about the specific gene mutations associated with SMARD1. By analyzing an individual’s DNA, scientists can identify mutations in the IGHMBP2 gene, which is responsible for encoding proteins involved in the function of motor neurons. These mutations impair the production or function of these proteins, leading to the symptoms of SMARD1.

For individuals and families affected by SMARD1, genetic testing can provide important insights into the causes and inheritance patterns of the condition. It can help them understand the likelihood of passing the condition on to future generations and can inform decisions about family planning.

There are several resources available for individuals seeking genetic testing for SMARD1. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive clinical and genetic information about rare diseases, including SMARD1. PubMed is a scientific research database where individuals can find articles and studies related to the genetics of SMARD1. ClinicalTrials.gov is another valuable resource for finding ongoing clinical studies and trials focused on the genetic testing and management of SMARD1.

Advocacy organizations and support groups for SMARD1 can also provide additional information and resources on genetic testing. These organizations often have partnerships with genetic testing centers and can help individuals navigate the testing process, understand the results, and connect with other families affected by SMARD1.

Overall, genetic testing plays a crucial role in understanding and managing SMARD1. It can provide important information about the specific gene mutations involved, help individuals make informed decisions about family planning, and support ongoing research efforts to develop effective treatments for this rare condition.

Genetic and Rare Diseases Information Center

Spinal muscular atrophy with respiratory distress type 1 (DSMA1) is a rare genetic condition that affects the muscles and respiratory function in affected individuals. It is also known by other names such as infantile spinal muscular atrophy with respiratory distress, distal spinal muscular atrophy type 1, and DSMA1.

DSMA1 is typically associated with mutations in the SURV1 gene, which is also known as the IGHMBP2 gene. This gene provides instructions for making a protein that is involved in the function and maintenance of motor neurons, nerve cells that control muscle movement.

When the SURV1 gene is mutated, it causes the muscles to atrophy and leads to respiratory distress in affected individuals. The frequency of DSMA1 is relatively low, and the condition is inherited in an autosomal recessive manner.

There are currently no specific treatments for DSMA1, but supportive care can help manage the symptoms and improve the quality of life for affected individuals. Genetic testing can confirm a diagnosis of DSMA1 and provide information about the specific gene mutation involved.

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information and support for rare genetic diseases. GARD provides comprehensive information about DSMA1, including its causes, inheritance pattern, signs and symptoms, and available resources for support and advocacy.

Additional scientific research and clinical studies can be found through references from resources such as PubMed, OMIM, and the ClinicalTrials.gov database. These sources can provide more in-depth information about the genetic basis, clinical features, and ongoing research for DSMA1.

In conclusion, DSMA1 is a rare genetic condition that causes muscle atrophy and respiratory distress in affected individuals. The Genetic and Rare Diseases Information Center (GARD) and other scientific resources provide valuable information and support for individuals and families affected by this condition.

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Patient Support and Advocacy Resources

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare and severe form of spinal muscular atrophy (SMA). It is characterized by respiratory distress and the loss of muscle control and function. This genetic disease is typically found in infantile individuals and is associated with mutated genes.

There are several patient support and advocacy resources available to help individuals and families affected by SMARD1. These resources provide information, support, and guidance on various aspects of the disease. Here are some notable resources:

  • SMA Support UK: SMA Support UK is a UK-based charity that provides support and information to individuals and families affected by SMA and related conditions. Their website offers valuable resources, including articles, research studies, and additional references.
  • ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database that provides information on clinical trials for various diseases, including SMARD1. This resource can help individuals interested in participating in research studies or clinical trials.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides information on genetic diseases and the associated genes. It offers detailed scientific information on SMARD1, including genetic inheritance, gene names, and clinical features.
  • PubMed: PubMed is a resource that provides access to a vast collection of medical research articles. This database can be used to find studies and articles related to SMARD1 and respiratory distress.

It is important for individuals and families affected by SMARD1 to connect with patient support and advocacy resources. These resources can help them learn more about the disease, find support from others going through similar experiences, and stay informed about the latest research and treatment options.

Research Studies from ClinicalTrialsgov

Spinal muscular atrophy with respiratory distress type 1 (DSMA1) is a rare genetic condition associated with muscular atrophy and respiratory distress in infants. It is also known as spinal muscular atrophy with respiratory distress, type 1 (SMARD1) or distal spinal muscular atrophy type 1.

DSMA1 is caused by mutations in the IGHMBP2 gene, which codes for a protein involved in the function of motor neurons that control the muscles. These mutations lead to the loss of motor neuron function and the progressive muscle weakness and respiratory distress observed in affected individuals.

Research studies conducted by ClinicalTrialsgov aim to further understand the causes and effects of DSMA1 and develop potential treatments for this rare condition. These studies often involve genetic testing to identify the specific gene mutations associated with DSMA1 and the frequency of these mutations in affected individuals.

One such study listed on ClinicalTrialsgov is investigating the effectiveness of a new potential treatment for DSMA1. The study aims to evaluate the safety and efficacy of a drug that may help improve motor function and respiratory distress in individuals with DSMA1. Results from this study may provide valuable information on potential treatment options for individuals with this condition.

In addition to these research studies, ClinicalTrialsgov provides valuable information and resources for individuals and families affected by DSMA1. The site includes articles, references, and resources on DSMA1 and other related diseases, as well as advocacy and support organizations that can provide additional information and support to individuals with DSMA1 and their families.

By participating in research studies and accessing information from ClinicalTrialsgov, individuals with DSMA1 and their families can learn more about this rare genetic condition and find support and resources to help them better manage the symptoms and challenges associated with DSMA1.

Additional Resources:

Catalog of Genes and Diseases from OMIM

Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal muscular atrophy type 1 (DSMA1), is a rare autosomal recessive genetic condition. It is characterized by severe muscular atrophy and respiratory distress in infants.

OMIM, Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable resources for individuals and clinicians to learn more about genetic conditions like SMARD1 and other related diseases.

OMIM contains information about the genetic causes of diseases, the function of genes and proteins, clinical studies and research articles, and clinical trials related to these conditions. It also includes additional resources and references for further reading.

For individuals with SMARD1 and their families, OMIM can provide support and information about the condition’s inheritance pattern, frequency, and associated symptoms. It also offers advocacy and scientific support for research on SMARD1 and other rare diseases.

By cataloging the names of genes and diseases, OMIM helps researchers, clinicians, and patients to better understand and control these conditions. It is a valuable tool for genetic testing and research in the field of rare diseases.

Some useful resources related to SMARD1 and other rare diseases can be found on OMIM, PubMed, and ClinicalTrials.gov. These resources can offer more information on diagnosis, treatment, and ongoing clinical studies.

OMIM Resources
Website Description
OMIM Comprehensive catalog of genes and diseases
PubMed Database of scientific articles
ClinicalTrials.gov Database of ongoing clinical trials

OMIM and other resources provide a valuable foundation for research on SMARD1 and other rare diseases. By studying the mutated genes and proteins associated with these conditions, researchers hope to develop better diagnostic and therapeutic approaches for affected individuals.

Scientific Articles on PubMed

Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal muscular atrophy type 1 (DSMA1), is a rare genetic condition associated with mutations in the IGHMBP2 gene. This condition typically affects infants and is characterized by severe respiratory distress and muscle weakness.

There are additional scientific articles available on PubMed that provide more information about this rare condition and its associated symptoms, testing, and inheritance. Some studies have focused on the molecular and cellular functions of the mutated proteins and how they impact muscle function and respiratory support.

Research articles on PubMed have also explored other causes of respiratory distress and muscle weakness in infants, as well as potential treatment options and clinical trials. These articles can be a valuable resource for individuals and families affected by SMARD1, as well as healthcare professionals and researchers.

For more information on SMARD1, individuals and families can also refer to resources such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov for clinical trials and advocacy groups. These resources provide valuable information about the condition, its frequency, and available support.

References:

References

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