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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Neuroacanthocytosis


Other Names for this Disease
  • Neuroacanthocytosis syndrome
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Overview



What is neuroacanthocytosis?

How might neuroacanthocytosis be treated?


What is neuroacanthocytosis?

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

How might neuroacanthocytosis be treated?

There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases.[1]

More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.
Last updated: 12/28/2011

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.