Presentation
Paroxysmal dyskinesias
Discinesias paroxísticas
Rev Neurol 2009
, 48(Suplemento 1),
7–9;
https://doi.org/10.33588/rn.48S01.2008747
Abstract
INTRODUCTION Paroxysmal dyskinesias are uncommon movements disorders that consist on recurrent brief episodes characterized by attacks with any combination of dystonia, chorea, athetosis or ballismus. DEVELOPMENT AND
CONCLUSIONS The pathophysiology of paroxysmal dyskinesias is unclear at the present time. An epileptic mechanism and basal ganglia disorders have been proposed although channelopathy due to ion channel mutations have been recently suggested. These disorders were classified by Demirkiran and Jankovic into two main groups: paroxysmal kinesigenic dyskinesia if the attacks were induced by sudden movement and paroxysmal nonkinesigenic dyskinesia if they were not. In addition to these groups, two more types have been known, namely paroxysmal exercise-induced dyskinesia and hypnogenic paroxysmal dyskinesia. As well association between benign infantile familial convulsions and paroxysmal choreoathetosis, or rolandic epilepsy, episodes of exercise induced dystonia, and writers’ cramp have been described. Also others paroxysmal movements disorders have been known, we mention below. Paroxysmal dyskinesias can further be divided into idiopathic (familiar in most of the cases) or secondary cases depending on underlying cause.
CONCLUSIONS The pathophysiology of paroxysmal dyskinesias is unclear at the present time. An epileptic mechanism and basal ganglia disorders have been proposed although channelopathy due to ion channel mutations have been recently suggested. These disorders were classified by Demirkiran and Jankovic into two main groups: paroxysmal kinesigenic dyskinesia if the attacks were induced by sudden movement and paroxysmal nonkinesigenic dyskinesia if they were not. In addition to these groups, two more types have been known, namely paroxysmal exercise-induced dyskinesia and hypnogenic paroxysmal dyskinesia. As well association between benign infantile familial convulsions and paroxysmal choreoathetosis, or rolandic epilepsy, episodes of exercise induced dystonia, and writers’ cramp have been described. Also others paroxysmal movements disorders have been known, we mention below. Paroxysmal dyskinesias can further be divided into idiopathic (familiar in most of the cases) or secondary cases depending on underlying cause.
Resumen
Introducción Las discinesias paroxísticas consisten en trastornos del movimiento infrecuentes, que ocurren de forma brusca y recurrente, manifestadas como posiciones distónicas, movimientos coreicos, atetósicos, balísticos o una combinación de éstos. Desarrollo y conclusiones. No conocemos con exactitud su fisiopatología. Se sugiere tanto un mecanismo epiléptico como una alteración de la modulación de los ganglios basales, aunque como alteración común se plantea que se trate de canalopatías por mutaciones en genes de canales iónicos. En función del precipitante de las discinesias podremos hablar de discinesias no cinesogénicas, cinesogénicas, inducidas por ejercicio o hipnogénicas, siguiendo la última clasificación propuesta por Demirkiran y Jankovic. Además, se han descrito asociaciones como el síndrome de convulsiones infantiles y coreoatetosis paroxística o la asociación de epilepsia rolándica, distonía paroxística inducida por el ejercicio y calambre del escribiente. También se han descrito otros trastornos del movimiento paroxísticos; aunque no entraremos en detalles, se nombrarán posteriormente. Las discinesias paroxísticas también se diferencian, dependiendo de su etiología, en idiopáticas (familiares en la mayoría de los casos) y secundarias (sintomáticas de una enfermedad subyacente).
Keywords
Channelopathy
Choreoathetosis
Hypnogenic
Kinesigenic
Paroxysmal dyskinesias
Rolandic epilepsy
Writer’s cramp
Palabras Claves
Calambre del escribiente
Canalopatía
Cinesogénica
Coreoatetosis
Discinesias paroxísticas
Epilepsia rolándica
Hipnogénica