Movement disorders in adults with a metabolic disease
Metabolic diseases are rare heriditary diseases. They are caused by a mistake in the genetica material (DNA). As a result of this mistake in the DNA, there is missing or too little of an important protein or enzyme in the cells of the body. These are necessary to properly break down, converte or transport nutrients to other places in the body. This can cause many different symptoms, including movement disorders.
Symptoms of a metabolic disease can appear in childood, but also in adulthood. In recent years, more and more attention has been paid to adults with a metabolic disease. The symptoms of adults are often different from the symptoms of a child with the same metabolic disease, psychiatric symptoms, cognitive complaints and movement disorders are often more dominant.
Within the Expertise Centre Movement Disorders Groningen Lisette Koens studies both children and adults with movement disorders due to a metabolic disease.
"My goal is to enlarge the knowledge about metabolic diseases as a cause for movement disorders in adults. I combine clinical phenotyping with genetic testing (Next Generation Sequencing) and biochemical testing to find the diagnosis. Besides that I will create a new algorithm to gain more insight in the combinations of symptoms that occur in adults with metabolic diseases, for example movement disorders, psychiatric disorders and eye movement disorders. My project will help doctors in selecting adult patients who have to be tested for metabolic diseases."