Genetic Testing and Counseling
Genetics and Movement Disorders
Our body is made up of millions of cells, and in each cell there are genes. Genes are responsible for things like our hair color, eye color, height and weight, as well as our susceptibility to disease. Gene mutations are present in all of us and certain factors determine how they impact our bodies and our health. Some mutations are passed down to us from our family members, while others are acquired throughout our lifetime.
Although most gene mutations are harmless, they can sometimes lead to movement disorders including Parkinson’s disease, dystonia or chorea.
Genetic testing is a process used to identify gene mutations. The results of a genetic test can confirm or rule out a suspected genetic condition, or help determine a person's chance of developing or passing on a genetic disorder. Understanding these results also helps researchers develop therapies to better treat diseases like movement disorders.
For patients like you, the decision to have genetic testing can be difficult, but there are benefits. Genetic testing can help you make informed decisions about your health, and may provide a sense of relief from the uncertainty of ‘not knowing.’ It can also assist with family planning.
When your symptoms are unusual or your condition is rare, genetic testing may yield a more accurate diagnosis, which could alter your treatment path and lead to better outcomes. If genetic testing determines that you have a gene mutation that causes a certain disease, starting treatment as soon as possible may also be helpful.
You may want to consider genetic testing for movement disorders if:
- You have early onset disease or unusual symptoms
- You have family members with a movement disorder and want to know if you are a carrier of the gene mutation
- You have been diagnosed with a movement disorder and want to know the risk of passing it on to your children
- You have been diagnosed with or have symptoms of Huntington’s or Wilson’s disease, or another rare movement disorder
If you are considering genetic testing, meeting with a genetic counselor can help you determine whether genetic testing may be right for you and your family. A genetic counselor is a medical professional who is trained to provide you with support and education on topics including:
- Genetic testing options
- Inheritance patterns
- Symptoms and features of specific disorders
- Family planning
- Strategies for dealing with your test results
After testing, a genetic counselor will meet with you to review your results and ensure that you understand the implications of any findings. If necessary, they will also help you determine next steps.