Scoliosis — a condition characterized by an abnormal curvature of the spine — is generally rare, affecting only about 2-3% of the population. When scoliosis develops in adolescence and has no known cause, it is called Adolescent Idiopathic Scoliosis (AIS). AIS primarily affects girls, with a frequency of around 10 times higher than in boys.

The exact causes of AIS have not been fully understood yet, but research suggests a genetic component. Studies have identified several genes that are associated with the condition, although to date, no single gene has been found to be the main cause. Further genetic research is needed to better understand the inheritance patterns and underlying mechanisms of AIS.

This rare condition has been the subject of numerous articles, research studies, and clinical trials. PubMed, a comprehensive database of scientific articles, provides a wealth of information on AIS, from its clinical features and treatment options to the latest scientific advances. ClinicalTrials.gov also lists ongoing and completed clinical trials related to AIS, offering additional resources for patients and researchers alike.

Although AIS is generally not severe and does not cause major health problems, it can lead to progressive curvature of the spine and may require medical intervention, such as bracing or surgery. Early detection and regular monitoring are essential to ensure the best outcomes for individuals with AIS. Patient advocacy centers and genetic support organizations can provide valuable support and resources for individuals and families affected by this condition.

For additional information on Adolescent Idiopathic Scoliosis, the Online Mendelian Inheritance in Man (OMIM) database and other scientific catalogs are valuable resources. References and citations from these sources can further enhance our understanding of this complex condition and contribute to ongoing research efforts to improve diagnosis, treatment, and patient outcomes.

Frequency

The frequency of Adolescent idiopathic scoliosis (AIS) is estimated to be around 2-3% in the general population. AIS affects both boys and girls, but the ratio is higher in girls.

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Testing for AIS includes the measurement of the curve and curvature of the spine. This can be done through various methods such as X-rays or physical examinations.

Scientific studies have been conducted to understand the frequency of AIS and its genetic causes. Resources like PubMed and OMIM catalog articles and information on genetic research, clinical trials, and inheritance patterns of AIS.

Support and advocacy organizations like the Scoliosis Research Society and the National Scoliosis Foundation provide additional information and support to patients and their families. They also help raise awareness about AIS and other rare conditions.

It is important to note that AIS can vary in severity, and some cases may require surgical intervention. Late diagnosis or treatment can lead to complications and other related health problems.

References:

1. Additional information on the frequency and causes of AIS. Retrieved from PubMed.
2. OMIM database. Retrieved from OMIM.
3. Support and information on AIS. Retrieved from Scoliosis Research Society and National Scoliosis Foundation.
4. Clinical trials related to AIS. Retrieved from ClinicalTrials.gov.

Causes

Adolescent idiopathic scoliosis (AIS) is a rare condition that affects the spine of adolescent girls. The exact cause of AIS is not yet fully understood, but research suggests that it may be influenced by genetic factors.

Genes play a role in the development of this condition, as studies have shown a higher frequency of AIS in families with a history of the disease. Although the specific genetic inheritance pattern is unclear, scientific research and clinical trials are underway to further investigate the genetic basis of AIS.

In addition to genetic factors, other potential causes of AIS include problems with the growth and development of the spine, as well as rare diseases or conditions that can affect spinal curvature. However, these causes are relatively uncommon and further research is needed to better understand their role in the development of AIS.

For more information on the genetic aspects of AIS, additional resources can be found at the Center for Genetic Advocacy, as well as on PubMed, where scientific articles and citations related to AIS and genetic testing can be accessed.

Inheritance

Adolescent idiopathic scoliosis (AIS) is commonly considered to be a multifactorial disease, meaning that multiple genetic and environmental factors contribute to its development. The exact cause of AIS remains unknown, but it is believed that it results from the interaction of genetic and environmental factors.

Genetic factors play a major role in the development of AIS. Studies have shown that there is a strong familial component to the disease, with a higher prevalence among first-degree relatives of affected individuals. This suggests that there is a genetic basis for the condition, although the specific genes involved have not yet been identified.

Research into the genetic basis of AIS is ongoing, and various genetic testing methods are being explored. Advances in genomic sequencing techniques have made it possible to identify potential genetic variants associated with AIS. These studies aim to identify the genes responsible for AIS and understand how they contribute to the development of the condition.

Additional research is also being conducted to investigate the potential association between AIS and other genetic diseases. Some studies have suggested that individuals with AIS may be at an increased risk of developing other conditions, such as Marfan syndrome or connective tissue disorders. However, further research is needed to establish the nature and extent of these associations.

Scientific resources such as the Online Mendelian Inheritance in Man (OMIM) catalog provide information on the genetic basis of various diseases, including AIS. OMIM includes references to scientific articles and clinical studies that provide insights into the genetics of AIS.

Although the precise inheritance pattern of AIS is not fully understood, studies have shown that it can be inherited in a familial manner. This means that individuals with a family history of AIS have an increased risk of developing the condition themselves. However, the inheritance pattern is likely complex, involving both genetic and environmental factors.

Genetic counseling and testing can be beneficial for individuals and families affected by AIS. Genetic testing can help identify the specific genetic variants associated with AIS in a given individual, providing valuable information for diagnosis, prognosis, and treatment planning.

Support organizations and advocacy groups are also available to provide information and support to individuals and families affected by AIS. These organizations can provide resources and guidance on genetic testing, clinical trials, and other research opportunities.

In conclusion, the genetic basis of AIS is an area of ongoing research. While the exact genes and inheritance pattern have not yet been fully elucidated, studies suggest a strong genetic component to the development of the condition. Genetic testing and research studies are important tools for understanding AIS and developing targeted treatments for affected individuals.

Other Names for This Condition

• Adolescent idiopathic scoliosis
• AIS
• Curvature of the spine
• Scoliosis, adolescent idiopathic

Adolescent idiopathic scoliosis, also known as AIS or curvature of the spine, has several other names used to refer to this condition. AIS is a genetic disorder that affects the curvature of the spine, particularly in adolescent girls. It is often diagnosed during adolescence and can cause severe spine deformities if left untreated.

Genetic studies have shown that AIS has a strong genetic component, although the specific genes involved in its inheritance and development are still being researched. Several scientific articles and research studies have been conducted to identify the genes responsible for AIS, and additional genetic testing resources are available for patients and healthcare providers.

Support and advocacy organizations, such as the AIS Genetics Information and Support Center, provide valuable information and resources for patients and their families affected by AIS. They offer genetic testing information, patient support networks, and references to scientific articles and research studies on the condition.

Although AIS is a rare condition, it is important for healthcare providers to stay informed about its clinical features and causes. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the frequency, clinical features, and genetic inheritance of AIS, as well as references to scientific articles, patient resources, and research studies.

For more information on this condition and ongoing research, healthcare providers can refer to the PubMed database, which offers a wide range of articles on AIS and related diseases. Additionally, the clinicaltrialsgov website provides information on ongoing clinical trials and research studies related to AIS, which can be helpful in understanding the latest advancements in this field.

Additional Information Resources

• Catalog of Clinical Trials: A comprehensive catalog of clinical trials related to adolescent idiopathic scoliosis can be found on clinicaltrials.gov. This resource provides information on ongoing and completed studies, including details on the study design, patient recruitment, and treatment interventions.
• Inheritance of AIS: For information on the genetic inheritance of adolescent idiopathic scoliosis, Online Mendelian Inheritance in Man (OMIM) is a valuable resource. OMIM provides a comprehensive database of genetic disorders, including information on the frequency and causes of these conditions.
• Scoliosis Support Groups and Advocacy Organizations: There are several organizations that provide support, resources, and advocacy for individuals with scoliosis and their families. Some of these organizations include the Scoliosis Research Society, National Osteoporosis Society, and the Curvy Girls Scoliosis Foundation.
• Additional Articles and References: PubMed is a valuable resource for accessing scientific articles and references related to adolescent idiopathic scoliosis. By searching for relevant keywords, such as “adolescent idiopathic scoliosis”, “scoliosis genetics”, or “scoliosis treatment”, you can access a range of published studies and review articles on the topic.

Genetic Testing:

Genetic testing may be recommended for individuals with severe or early-onset scoliosis, as a considerable genetic component has been identified in the development of adolescent idiopathic scoliosis. Although testing for specific genes associated with AIS is currently not part of routine clinical practice, research studies are ongoing to identify the genetic factors contributing to the condition. Genetic testing can help identify potential genetic causes and inform treatment decisions and management strategies.

Spine Centers and Clinics:

• Scoliosis Research Society: The Scoliosis Research Society (SRS) is an international organization dedicated to the research and treatment of scoliosis. The SRS website provides information on approved spine centers and experts specializing in scoliosis treatment and management.
• Other Spine Clinics: There are various other spine clinics and centers around the world that specialize in the diagnosis and treatment of scoliosis. Consultation with a specialist or referral to a spine center can provide comprehensive evaluation and treatment options for individuals with adolescent idiopathic scoliosis.

Genetic Testing Information

Although rare, Adolescent Idiopathic Scoliosis (AIS) can be influenced by genetic factors. Genetic testing can provide additional information about the genetic causes of this condition.

Genes play a role in spine development, and certain genes have been identified as potential contributors to AIS. Research studies have identified several genes that may be associated with the development of scoliosis, including those related to bone formation and regulation of spine curvature.

Genetic testing can help identify the specific genes involved in AIS and provide valuable information for diagnosis and treatment. This testing can be done through specialized genetic testing centers, which can analyze DNA samples to identify genetic variations or mutations that may be associated with the condition.

It is important to note that the frequency of genetic causes of AIS is generally low, and other factors outside of genetics, such as growth and development, play a significant role in the development of spinal curvature.

If a genetic cause is identified, additional testing may be recommended to assess the risk of other spine problems or associated diseases. This can help guide treatment decisions and provide targeted support for patients with severe or late-onset scoliosis.

There are several resources available for genetic testing information, including scientific articles, research studies, and clinical trial databases. The OMIM database and ClinicalTrials.gov can provide detailed information on genetic causes, testing methods, and ongoing research studies in this field.

Patients and families can also seek support and information from patient advocacy organizations and genetic testing centers. These organizations can provide educational resources, support networks, and access to genetic counseling services.

In conclusion, genetic testing can provide valuable information about the genetic causes of Adolescent Idiopathic Scoliosis. Although rare, identifying the genetic factors can help in diagnosis, treatment, and supporting patients with severe or late-onset scoliosis. Patients and families can rely on various resources, such as scientific articles, research studies, and patient advocacy organizations, to learn more about genetic testing and its implications for AIS.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is an advocacy and support center for patients and families affected by rare genetic diseases. This center provides comprehensive information on a variety of rare diseases, including Adolescent Idiopathic Scoliosis.

Although the exact genetic causes of Adolescent Idiopathic Scoliosis are still unknown, research studies have identified certain genes that may be associated with the development of this condition. Some of these genes are also linked to other spine and skeletal problems.

Additional studies have shown that the inheritance of Adolescent Idiopathic Scoliosis follows a complex genetic pattern. It is believed that both genetic and environmental factors contribute to the development of this condition.

The frequency of Adolescent Idiopathic Scoliosis is higher in girls compared to boys, and the severity of the spinal curvature can vary widely among patients. Late onset cases are also reported, where the condition develops during adolescence.

If you are a patient or a family member seeking more information on the genetic causes and testing for Adolescent Idiopathic Scoliosis, the Genetic and Rare Diseases Information Center provides valuable resources and references. The OMIM database and PubMed are great sources of scientific articles and research studies on this condition.

The OMIM database, or Online Mendelian Inheritance in Man, provides information on the genetic inheritance patterns and genes associated with various rare diseases. PubMed is a searchable database of scientific articles, including those related to the genetic causes and testing of Adolescent Idiopathic Scoliosis.

For additional support and information, the Genetic and Rare Diseases Information Center recommends checking for ongoing clinical trials on ClinicalTrials.gov. These trials may provide more insight into the genetic causes of Adolescent Idiopathic Scoliosis and potential testing options.

Patient Support and Advocacy Resources

Adolescent idiopathic scoliosis is a rare condition that affects the spine and causes a curvature in the late stages of puberty. It is more common in girls and can be associated with genetic factors. For patients and families looking for additional information and support, there are several patient support and advocacy resources available.

• Genetic Testing and Inheritance Information: Genetic testing can help identify specific genes and genetic factors that may contribute to the development of adolescent idiopathic scoliosis. This information can be valuable for understanding the causes of the condition and for genetic counseling. Resources for genetic testing and inheritance information include:

1. OMIM (Online Mendelian Inheritance in Man) – provides comprehensive information and references related to genetic disorders and their inheritance patterns. A specific search for adolescent idiopathic scoliosis can yield useful results.
2. PubMed – a database of scientific articles and research studies. Searching for “adolescent idiopathic scoliosis genetics” can provide access to the latest scientific research and studies on the topic.

Patient Support and Advocacy Organizations: There are organizations dedicated to supporting patients with adolescent idiopathic scoliosis and their families. These organizations can provide information, resources, and support networks for individuals affected by the condition. Some notable organizations include:

1. Scoliosis Research Society – an international society dedicated to the research and treatment of spinal deformities, including adolescent idiopathic scoliosis. Their website provides information on treatment options, research updates, and patient support resources.
2. National Scoliosis Foundation – a US-based organization that aims to educate and support individuals with scoliosis and their families. They offer information on treatment options, educational materials, and a helpline for patient support.

Patient Support Forums and Communities: Online forums and communities can provide a space for patients and families to connect, share experiences, and find emotional support. Some popular forums and communities for adolescent idiopathic scoliosis include:

1. National Scoliosis Foundation Forum – an online community where patients and families can share their stories, ask questions, and find support from others.
2. Scoliosis Association UK Forum – a UK-based forum that provides a platform for individuals affected by scoliosis to connect with each other and share information and advice.

These resources can provide valuable information and support for patients and families affected by adolescent idiopathic scoliosis. They can help individuals navigate the complexities of the condition, connect with others facing similar challenges, and access the latest research and treatment options.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about adolescent idiopathic scoliosis, a condition characterized by the abnormal curvature of the spine in adolescents. Although the exact causes of this condition are still unknown, studies have shown a potential genetic inheritance for the development of scoliosis.

Inheritance and Genetic Testing

Several research studies have explored the genetic factors contributing to the development of idiopathic scoliosis. These studies have identified rare genes that may play a role in the condition, although further testing and research are necessary to fully understand their impact on scoliosis development.

ClinicalTrials.gov provides information on ongoing genetic research studies investigating the connection between genetic factors and scoliosis. These studies aim to identify specific genes associated with the development of scoliosis in order to improve diagnostic testing and treatment options.

ClinicalTrials.gov as a Resource

ClinicalTrials.gov serves as a valuable resource for both researchers and patients interested in adolescent idiopathic scoliosis. The website provides information on ongoing research studies, their objectives, and how patients can participate in them.

In addition, ClinicalTrials.gov offers references to other scientific papers and articles related to scoliosis research, providing further information and support for scientific inquiry and advocacy.

Catalog of Curvature and Patient Information

ClinicalTrials.gov also serves as a central repository of information on scoliosis curvature and patient resources. The website provides information on the different types of scoliosis curves and their potential causes, as well as treatment options available for patients with varying degrees of severity.

Furthermore, ClinicalTrials.gov offers information on late-onset idiopathic scoliosis and other rare diseases that may have similar symptoms and causes, further supporting the scientific investigation into the complexity of scoliosis development.

References and Additional Information

For additional information and resources on adolescent idiopathic scoliosis and genetic testing, researchers and patients can explore the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information on genetic disorders and their associated genes.

Scientific papers and articles on scoliosis research can be found on PubMed, offering a wide range of literature for researchers and healthcare professionals interested in staying updated on the latest advancements in scoliosis research.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic diseases and their associated genes. OMIM is short for Online Mendelian Inheritance in Man, a public database that catalogs information on genetic disorders and their inheritance patterns.

Many genetic diseases, including Adolescent Idiopathic Scoliosis (AIS), have been extensively studied and documented in OMIM. AIS is a condition characterized by the abnormal lateral curvature of the spine, typically occurring in late childhood or adolescence. Although the exact causes of AIS are not well understood, genetic factors are believed to play a significant role.

The Catalog includes a wealth of information on both common and rare genetic diseases. Each entry provides details on the clinical presentation, inheritance patterns, and additional resources for research and testing. For AIS, OMIM provides information on the genetic basis of the condition, supporting studies, and clinical trial information listed on ClinicalTrials.gov.

Researchers and healthcare professionals can utilize the Catalog to access up-to-date information on AIS and other genetic conditions. The provided references and articles allow further exploration of the scientific literature, providing a more in-depth understanding of the condition and associated genetic factors.

OMIM Information for Adolescent Idiopathic Scoliosis:

• Genetic Inheritance: Although the inheritance pattern of AIS is complex and not fully understood, several genetic factors have been implicated.
• Genes: OMIM provides a list of genes associated with AIS, including those involved in the regulation of spine development.
• Clinical Trials: ClinicalTrials.gov lists ongoing clinical trials and research studies investigating potential treatments, risk factors, and genetic markers associated with AIS.
• Patient Support and Advocacy: The Catalog includes information on patient support groups and advocacy organizations dedicated to AIS awareness and research.

Frequency and Late Severe Problems:

AIS is the most common form of scoliosis and primarily affects girls. The frequency of AIS varies among populations, with some studies reporting higher prevalence rates than others. Late severe problems can occur in a small percentage of individuals with AIS, leading to significant spinal deformities and functional limitations.

Resources and Testing:

OMIM provides information on testing options and laboratories specializing in the genetic evaluation of AIS and related conditions. This can aid healthcare professionals and patients in obtaining a definitive diagnosis and appropriate management strategies.

In conclusion, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for accessing comprehensive and up-to-date information on genetic diseases, including Adolescent Idiopathic Scoliosis. The provided information, references, and resources contribute to the understanding and management of AIS, supporting further research and advancements in the field.

Scientific Articles on PubMed

Adolescent idiopathic scoliosis is a rare condition characterized by the lateral curvature of the spine in adolescent patients. The exact causes of this condition are still unknown, although research suggests that both genetic and environmental factors play a role in its development.

Scientific articles on PubMed provide valuable information and references for studying and understanding adolescent idiopathic scoliosis. Many studies have focused on the genetic basis of this condition, as it is believed to have a strong genetic component. Genetic testing and studies have identified various genes that are associated with the development of adolescent idiopathic scoliosis.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding information on the genetic basis of this condition. It catalogues information on various genetic diseases and provides references to scientific articles and studies related to adolescent idiopathic scoliosis.

In addition to genetic factors, other potential causes of adolescent idiopathic scoliosis are still being studied. Research has also looked into the role of hormonal imbalances, biomechanical factors, and neuromuscular abnormalities in the development of this condition.

PubMed provides a comprehensive list of scientific articles and research studies on adolescent idiopathic scoliosis. These articles cover a wide range of topics, including the frequency and severity of the condition, its inheritance patterns, and the efficacy of different treatment options.

ClinicalTrials.gov is another valuable resource for finding information on ongoing clinical trials and research studies related to adolescent idiopathic scoliosis. It provides information on the latest research and clinical trials that are investigating new treatment approaches and potential interventions for this condition.

The information and resources available on PubMed and ClinicalTrials.gov support the scientific community in advancing the understanding of adolescent idiopathic scoliosis and developing effective treatment strategies for patients.

In summary, scientific articles on PubMed provide a comprehensive overview of the genetic and environmental factors contributing to adolescent idiopathic scoliosis. The information available on genetic testing, inheritance patterns, and potential causes of this condition can be utilized by clinicians and researchers to improve patient care and develop new treatment options.

References

• Adolescent Scoliosis Genetic Consortium: This consortium provides information on the genetic causes of adolescent idiopathic scoliosis. It conducts research studies and clinical trials to better understand the condition. You can find additional information on their website. [1]

• Genetics Home Reference: This online resource provides information on the genetic basis of various diseases, including adolescent idiopathic scoliosis. It offers a comprehensive overview of genetic testing and other resources related to this condition. [2]

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It contains detailed information on the genetic factors associated with adolescent idiopathic scoliosis. [3]

• PubMed: PubMed is a database of scientific articles. It includes numerous research studies on the genetic causes and inheritance patterns of adolescent idiopathic scoliosis. [4]

• ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of ongoing and completed clinical trials. It provides information on current research studies related to the treatment and genetic testing of adolescent idiopathic scoliosis. [1]

• Genetic Advocacy and Support Groups: Various genetic advocacy and support groups offer resources and support for patients and families affected by adolescent idiopathic scoliosis. These groups provide information on available genetic testing and help connect individuals with similar experiences. [1]