About the Radboudumc center of expertiseThe expertise of this center focuses on the diseases Ataxia, Hereditary Spastic Paraparesis (HSP) and Neurometabolic disorders (metabolic diseases that lead to neurological symptoms). The expertise lies mainly in the (pediatric) neurological knowledge of these diseases, genetic diagnostics and rehabilitation.
Examples of other conditions seen within our center include Huntington's disease, hereditary forms of Parkinson's disease, and hereditary and rare dystonias.
The departments that work together at this center are Neurology, Genetics and Rehabilitation, but when necessary other disciplines are contacted (e.g. cardiologist, ophthalmologist, or urologist).
The center is open to both children and adults.
Consulting hoursFor adult patients, Neurology offers specialized clinics for movement disorders and for ataxias. Neurology and Genetics run a joint clinic for genetic movement disorders. The Rehabilitation department has specialized, multidisciplinary clinics for HSP and for Ataxia.
For ataxia telangiectasia (AT) there is a multidisciplinary outpatient clinic, in which (pediatric) neurologists collaborate with pulmonoligists, immunologists, rehabilitation specialists, speech and language therapists, and physiotherapists.
Getting to your appointment Genetic Movement Disorders
Entrance: Radboudumc, East entrance (ingang Oost)
Your visitThe procedure at our center strongly depends on the on the suspected diagnosis, reason of referral, care needs, etc. In general, the first visit to one of the specialists is the most extensive. After this, we will review and share with you the further options for diagnostic tests and/or treatment. For some patients, a single visit is sufficient, while in other cases several visits are required, for example, for further examinations or to evaluate treatments.
What might we do for you?Patients, both adults and children, with a rare and (possibly) hereditary movement disorder can visit to our center. We are focused on finding the exact hereditary cause, offering detailed information about a hereditary disease, and giving advice about possible treatments.
Making an appointmentPatients can be referred to our center by their own specialist or, in some cases, by their own general practitioner. It is important to us that as much relevant information as possible (including earlier genetic research, MRI scans, etc.) is sent together with the referral. In addition, it is very helpful if the patient has a clear overview of diseases that run in his/her family.
RehabilitationIf it is clear that the question lies particularly in the area of rehabilitation, the referral can be sent directly to that department.
The referral may be sent directly to the Clinical Genetics department if the patient if there is a specific counseling question, for example on risk predictions in case of a known genetic condition or on predictive testing.
When making a referral, please mention that the referral regards a genetic movement disorder.
ResearchA lot of research on these diseases is being conducted. Examples include:
- finding new causes
- investigating the mechanisms in the brain in these disorders
- studying rehabilitation treatments