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Genetic and Rare Diseases Information Center (GARD)

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Benign hereditary chorea


Other Names for this Disease

  • Chorea familial benign
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Overview

Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics.[1] The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections).[1] Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success.[1] BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.[1]
Last updated: 8/7/2014

References

  1. Jankovic J. Hyperkinetic movement disorders in children. In: Basow M. UpToDate. Waltham, MA: UpToDate; 2014;
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  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • 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 Benign hereditary chorea. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chorea familial benign
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.