Thursday, June 20, 2013
Inherited Disorders and Birth Defects
OPCA and Ataxia
OPCA runs through my family, however because of it`s tendency to happen later in life (50 years of age) they question whether it is really OPCA or Friedreich ataxia. Grandfather died from it, Mother and Aunt show symptoms. Does this mean there is a chance I will pass it to my children. I am young and have not shown symptoms. Is there genetic testing for this and a way a fertility clinic can help me find eggs without the gene?
Olivopontocerebellar atrophy (OPCA) is not a specific disease, but a term used to describe when the neurons (types of brain cells) of specific parts of the brain such as the cerebellum (the part of the brain at the back of the skull that is responsible for balance and coordination) or the pons (part of the brain stem). Patients with OPCA may have ataxia (trouble with balance and coordination), problems swallowing, and over time develop dementia. There are several genetic syndromes that have OPCA as part of them. Some of them are inherited and run in families (which sounds like your family) and others that are not inherited. Other types of disorders that include ataxia are hereditary spinocerebellar ataxia (known as Machado-Joseph disease) and multiple system atrophy (MSA). Friedreich ataxia may also look similar to these disorders.
Because many of these are inherited in an autosomal dominant fashion, there is a 50-50 or 1 out of 2 chance that if a parent has the disease they will pass it on to each of their children. In your case, if your mother has one of these disorders, there is a 50-50 chance of you having inherited it. If you have inherited it, you will have a 50-50 chance to pass it on to your children.
There are genetic tests that can be done to look for the genes that cause some of the diseases that have OPCA. I would recommend that you talk to a geneticist or genetic counselor to help you sort out what type of testing you could do to help you answer your questions. You can ask your doctor to refer you to a geneticist or you can locate a genetics center near you through the National Society of Genetic Counselors’ Resource Center at the website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University