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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. The onset, severity and specific physical findings vary depending upon the specific type of NA present. 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. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. 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).
Source: GARD Last updated on 05-01-20
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.
More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.
Last updated on 05-01-20
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. To find trials regarding neuroacanthocytosis, click on the link above and use "neuroacanthocytosis" as your search term. Individuals may also search for specific symptoms or complications of the disorder by using the appropriate term in a search. Although there may not be any trials listed at a specific point in time, the site is updated regularly and may be checked often.
You can find relevant articles on neuroacanthocytosis through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "neuroacanthocytosis" as your search term should help you locate articles. Use the Advanced or Limits features to narrow your search results. Click here to view a search.
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link: http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated on 05-01-20
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