Rare Gastroenterology News

Disease Profile

Osteomalacia

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

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ICD-10

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Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Summary

Osteomalacia is a disease that is characterized by a weakening of the bone, often due to a deficiency of vitamin D. This vitamin supports the development of the bones of the body, so when there are low levels of vitamin D, the bones are not strong enough. Symptoms of osteomalacia can include muscle weakness, bone pain, and walking with a waddling gait. Pain is especially likely to occur in the lower back, hips, and legs. The weakening of the bones may also cause them to easily fracture.[1] 

Osetomalacia can be caused by having a low level of vitamin D in the diet or lack of sun exposure. The condition may also be the result of an underlying disease such as celiac disease, or kidney or liver disorders. 

Diagnosis of osteomalacia is possible through blood or urine tests to check for vitamin D levels or a bone biopsy. Treatment options include supplementing the diet with more vitamin D or calcium. Any underlying condition will also need to be treated.[2]

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

  • The Mayo Clinic Web site provides further information on Osteomalacia.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The The Cleveland Clinic Web site has an information page on Osteomalacia. Click on the Cleveland Clinic link to view this page.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

References

  1. Bhan A, Rao AD, and Rao DS. Osteomalacia as a result of vitamin D deficiency. Endocrinology and metabolism clinics of North America. June 2010; 39(2):321-331. https://www.ncbi.nlm.nih.gov/pubmed/20511054.
  2. Marc K Drezner, MD, Peter J Snyder, MD, Charles J Menkes, MD, and Jean E Mulder, MD. Clinical manifestations, diagnosis, and treatment of osteomalacia. UpToDate; April 28, 2016; https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-treatment-of-osteomalacia.