Rare Medical News

Disease Profile

Adolescent idiopathic scoliosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Idiopathic adolescent scoliosis

Summary

Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "s" or "C" shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnormal spinal curve is stable; however, in some children, the curve becomes more severe over time (progressive). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. The cause of adolescent idiopathic scoliosis is unknown. It is likely that there are both genetic and environmental factors involved.[1] Treatment may include observation, bracing and/or surgery.[2]

Symptoms

Adolescent idiopathic scoliosis is characterized by an abnormal curvature of the spine (usually in an elongated "S" or "C" shape), along with twisted or rotated bones of the spine. Mild scoliosis generally does not cause pain, problems with movement, or difficulty breathing. It may only be diagnosed if it is noticed during a regular physical examination or a scoliosis screening at school. The most common signs of the condition include a tilt or unevenness (asymmetry) in the shoulders, hips, or waist, or having one leg that appears longer than the other. A small percentage of affected children develop more severe, pronounced spinal curvature.[1]

Scoliosis can occur as a feature of other conditions, including a variety of genetic syndromes. However, adolescent idiopathic scoliosis typically occurs by itself, without signs and symptoms affecting other parts of the body.[1]

Cause

The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not yet been identified.[1]

Researchers suspect that many genes are involved in adolescent idiopathic scoliosis. Some of these genes likely contribute to causing the disorder, while others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Although many genes have been studied, few clear and consistent genetic associations with this condition have been identified.[1]

Treatment

Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). The potential for growth is evaluated by taking into consideration the patient's age, the status of whether females have had their first menstrual period, and radiographic parameters (x-ray studies).[2]

Detailed information about these treatment options can be accessed through the Scoliosis Research Society.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • Genetics Home Reference contains information on Adolescent idiopathic scoliosis. This website is maintained by the National Library of Medicine.

      References

      1. Adolescent idiopathic scoliosis. Genetics Home Reference (GHR). September 2013; https://ghr.nlm.nih.gov/condition/adolescent-idiopathic-scoliosis. Accessed 11/10/2014.
      2. Idiopathic Scoliosis: Adolescents: Treatment. Scoliosis Research Society. 2014; https://www.srs.org/patient_and_family/scoliosis/idiopathic/adolescents/treatment.htm. Accessed 11/10/2014.
      3. Frequently Asked Questions. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/about-gard/pages/31/frequently-asked-questions. Accessed 3/6/2016.

      Rare Medical News