National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Olivopontocerebellar Atrophy is not the name you expected.
The term olivopontocerebellar atrophy (OPCA) has historically been used to describe a group of disorders that affect the central nervous system and are termed neurodegenerative diseases because they result in a progressive deterioration of nerve cells in certain parts of the brain. These conditions are characterized by progressive balance problems (disequilibrium), progressive impairment of the ability to coordinate voluntary movements (cerebellar ataxia), and difficulty speaking or slurred speech (dysarthria).
OPCA has been classified based on clinical, genetic, and neuropathological findings and there is significant controversy and confusion in the medical literature because of its association with two distinct groups of disorders, specifically multiple system atrophy (MSA) and spinocerebellar ataxia (SCA). Hereditary OPCA usually refers to the group of disorders that overlap with SCA. These conditions are discussed in detail in the NORD report on autosomal dominant hereditary ataxias. Sporadic OPCA refers to the group of disorders for which there is not yet evidence of a hereditary component. Some individuals with sporadic OPCA will develop MSA and this disorder is discussed in detail in the NORD report on MSA. In addition, there are rare types of OPCA that follow autosomal recessive inheritance including Fickler-Winkler type OPCA and the pontocerebellar hypoplasia conditions. One type of SCA follows X-linked inheritance. Currently, neurologists usually use the term OPCA as a preliminary diagnosis until a more specific diagnosis can be made with genetic testing or by ruling out other conditions.
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 3/21/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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