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Disease Profile

Nodding syndrome

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.

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US Estimated

Europe Estimated

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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Other names (AKA)

Nodding disease

Summary

Nodding syndrome is a rare form of epilepsy that occurs in children between the ages of 5 and 16. It is seen almost exclusively in children living in specific regions of Tanzania, Uganda and the Republic of South Sudan. Signs and symptoms of the condition include head nodding, seizures, stunted growth, and deterioration of cognitive abilities. Nodding syndrome may lead to malnutrition or even death through seizure-associated accidents. Many studies have identified an association between Nodding syndrome and Onchocerca volvulus, a parasitic worm that can also cause a condition called river blindness. More recently, scientists have found evidence to suggest that the condition is caused by an inappropriate immune response to the parasitic worm. Although there is currently no cure for Nodding syndrome, medical centers in Uganda have shown that treatment with certain medications (antiepileptic drugs and ivermectin), adequate nutrition, and psychosocial support can improve the long-term outlook of the condition.[1][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.

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. Johnson TP, Tyagi R, Lee PR, Lee MH, Johnson KR, Kowalak J, Elkahloun A, Medynets M, Hategan A, Kubofcik J, Sejvar J, Ratto J, Bunga, Makumbi I, Aceng JR, Nutman TB, Dowell SF, Nath A. Nodding syndrome may be an autoimmune reaction to the parasitic worm Onchocerca volvulus. Sci Transl Med. February 15, 2017; 9(377):https://www.ncbi.nlm.nih.gov/pubmed/?term=Nodding+syndrome+as+an+autoimmune+reaction+to+Onchocerca+volvulus.
  2. Colebunders R, Titulaer MJ. Nodding syndrome: Preventable and treatable. Sci Transl Med. February 15, 2017; 3(377):https://www.ncbi.nlm.nih.gov/pubmed/?term=Nodding+syndrome%3A+Preventable+and+treatable.