Diagnostic testing for dystonia
Hospital o serveis complementaris relacionats
Children's Hospital and Woman's Hospital
Traumatology, Rehabilitation and Burns Hospital
Description
Patients who are likely to suffer from dystonia undergo different metabolic, neurophysiological, and neuroimaging tests in order to classify what kind of dystonia they have, before carrying out genetic studies. Next, DNA sequencing studies are performed to establish the genetic origin of the dystonia.
What is it used for?
To determine the origin of the patient’s dystonia, which is essential for deciding on a correct course of treatment.
How is it performed?
There are many different genetic origins of dystonia. Therefore, diagnosing it requires both conventional and newly developed DNA sequencing techniques.
For patients with myoclonus-dystonia, first, Sanger sequencing is done for the epsilon-sarcoglycan gene, which is responsible for 70% of myoclonus-dystonia cases in children.
For patients with other kinds of dystonia, whole-exome sequencing (on the parents and the patient) or sequencing for the index case (the patient) is done first, depending on the DNA samples available.
Risks:
There are no risks for the patient.
Minguell Monyart
Minguell Monyart
Bosch Raventos
Bosch Raventos
Soldado
Soldado
Poca Pastor
Poca Pastor
Sanclemente Boli
Sanclemente Boli
Castellet Feliu
Castellet Feliu
Pacha Vicente
Pacha Vicente
Meléndez Plumed
Meléndez Plumed
Esteban Feliu
Esteban Feliu
Lluch Bergadà
Lluch Bergadà
Pérez Dueñas
Pérez Dueñas
Rivera Rubio
Rivera Rubio
Amat Mateu
Amat Mateu