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Disease Profile

Ossification of the posterior longitudinal ligament of the spine

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.


US Estimated

Europe Estimated

Age of onset





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


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.


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.


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


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.


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.


Not applicable


Other names (AKA)



Musculoskeletal Diseases


Ossification of the posterior longitudinal ligament of the spine (OPLL) is a condition that is characterized by the calcification of the soft tissues that connect the bones of the spine, which may lead to compression of the spinal cord. Many affected people do not have any signs or symptoms, while others may experience mild pain or numbness in the arms and/or legs. In some cases, OPLL may be associated with other conditions such as genetic diseases (i.e. hypophosphatemic rickets), endocrine disorders (i.e. acromegaly, hypoparathyroidism), spondyloarthropathies (i.e. ankylosing spondylitis), and diffuse idiopathic skeletal hyperostosis. OPLL is most commonly diagnosed in men, people of Asian descent and people over age 50. The exact underlying cause is currently unknown; however, scientists suspect that it is a multifactorial condition that is influenced by several different genetic and environmental factors. The treatment of OPLL depends the severity of the condition and the signs and symptoms present in each person. If more conservative treatments such as NSAIDs are not effective, surgery may be necessary.[1][2][3]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
Percent of people who have these symptoms is not available through HPO
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine

[ more ]

Autosomal recessive inheritance
Diabetes mellitus
Ectopic ossification
Increased reflexes
Increased bone mineral density
Increased bone density
Spinal cord compression
Pressure on spinal cord


Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

  • Emory Healthcare offers an information page on Ossification of the posterior longitudinal ligament of the spine for patients and caregivers. Please click on the link to access this resource.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ossification of the posterior longitudinal ligament of the spine. Click on the link to view a sample search on this topic.


  1. Andrew Eisen, MD, FRCPC. Disorders affecting the spinal cord. UpToDate. October 2014; Accessed 5/4/2015.
  2. Simon M Helfgott, MD. Diffuse idiopathic skeletal hyperostosis (DISH). UpToDate. December 2013; Accessed 5/4/2015.
  3. Ikegawa S. Genetics of ossification of the posterior longitudinal ligament of the spine: a mini review. J Bone Metab. May 2014; 21(2):127-132.