Rare Nephrology News

Disease Profile

Camptocormism

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

Elderly

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ICD-10

M43.8

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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Other names (AKA)

Camptocormia; Bent spine; Bent Spine Syndrome;

Categories

Nervous System Diseases

Summary

Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinson’s disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause.[1][2][3]

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.

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Camptocormism. Click on the link to view a sample search on this topic.

References

  1. Ghosh PS & Milone M. Camptocormia as presenting manifestation of a spectrum of myopathic disorders. Muscle Nerve. 2015; https://onlinelibrary.wiley.com/doi/10.1002/mus.24689/full. Accessed 9/17/2015.
  2. Upadhyaya CD, Starr PA & Mummaneni PV. Spinal Deformity and Parkinson Disease: A Treatment Algorithm. Neurosurg Focus. August, 2010.; 28(3):E5:https://www.medscape.com/viewarticle/723141_2. Accessed 9/17/2015.
  3. Lenoir T, Guedj N, Boulu P, Guigui P & Benoist M. Camptocormia: the bent spine syndrome, an update. Eur Spine J. March 19, 2010; 19(8):1229–1237. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2989190/. Accessed 9/17/2015.