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 conditons. 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.
WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street
Quebec, Intl H1M 1X6
Tel: (514) 321-8684
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
National Parkinson Foundation, Inc.
1501 NW 9th Ave/Bob Hope Road
Miami, FL 33136-1494
For a Complete Report
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html