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Genetic and Rare Diseases Information Center (GARD)

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Neuroacanthocytosis


Other Names for this Disease

  • Neuroacanthocytosis syndrome
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Overview

Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.[1] The onset, severity and specific physical findings vary depending upon the specific type of NA present.[1] Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes.[1][2] NA syndromes typically progress to cause serious, disabling complications and are usually fatal.[1] NA is inherited, but the disease-causing gene and inheritance pattern varies for each type.[1][2] Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).[1]
Last updated: 12/21/2011

References

  1. Neuroacanthocytosis. NORD. March 30, 2011; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/975/viewAbstract. Accessed 12/21/2011.
  2. NINDS Neuroacanthocytosis Information Page. NINDS. March 16, 2009; http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 12/21/2011.
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Other Names for this Disease
  • Neuroacanthocytosis syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.