| Keywords [eng] |
paroxysmal dyskinesia, paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, dystonia, PRRT2, PNKD, MR1, GLUT1, ECHS1, SLC2A1, GCH1 |
| Abstract [eng] |
Among rare genetical diseases, paroxysmal dyskinesia is one of them. It belongs to a heterogeneous group of neurological disorders with a complex pathophysiology, that is still not completely understood. Beyond that, there are multiple forms of the disease with a different pathophysiology, leading to the occurrence of a variety of symptoms. Among the leading symptoms are recurrent attacks of involuntary movement in a dystonic, choreatic or ballism-like manner without loss of consciousness. Paroxysmal dyskinesia can be classified into subgroups, including paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia and paroxysmal exercise-induced dyskinesia. The differential diagnoses incorporate, depending on the subtype, epileptic seizures, Sandifer syndrome, benign paroxysmal torticollis, transient dystonia of infancy, dopa-responsive dystonia, autoimmune disorders, focal seizures, Sydenham’s chorea, anti-phospholipid antibody syndrome, GLUT-1 deficiency syndrome and paroxysmal-episodic ataxia. The diagnosis is composed of a detailed history taking and physical examination according to the clinical features. If the presenting clinical symptoms and the underlying etiology fit together and all other possible causes are ruled out, the diagnosis paroxysmal dyskinesia can be established. Treatment is depending on the subtype of the disease. Treatment options for affected patients consist of pharmacological choices and lifestyle changes. Among the pharmacological treatment options are low-dose antiepileptic drugs, like carbamazepine. Lifestyle changes are made up of the reduction of triggers and a ketogenic diet. In majority of cases, the disease shows a partial or complete remission of symptoms in adulthood. |
