Resumen
La semiología de los trastornos del movimiento es variada. Se pueden clasificar según el tipo de movimiento y síndrome. Entre los síndromes hipocinéticos destaca el parkinsonismo y entre los hipercinéticos la distonía, las mioclonías, los tic y la corea. La etiología es diversa y, a nivel fisiopatológico, predomina la disfunción de los ganglios de la base con sus conexiones corticales.
La distonía se caracteriza por una contracción anormal de músculos agonistas y antagonistas, dando lugar a posturas anormales. Según la clasificación de las distonías, esas se clasifican siguiendo dos grandes axis, las características clínicas y la etiología. Dentro de la etiología con causa genética, se han identificado más de veinte loci, denominados previamente DYT.
La corea hace referencia a movimientos aleatorios, sin propósito e involuntarios que pueden ser secundarios a múltiples causas, entre ellas las enfermedades genéticamente determinadas. La enfermedad de Huntington es una entidad autosómico dominante por expansión patológica de tripletes en el gen HTT. Se trata de una enfermedad neurodegenerativa, en la que pueden coexistir múltiples trastornos del movimiento como corea, distonía y parkinsonismo.
El tratamiento tanto de la distonía primaria o genéticamente determinada como el de la enfermedad de Huntington y otras causas primarias de corea son sintomáticas.
Palabras clave
Trastornos del movimiento
Circuito de los ganglios de la base
Corea
Distonía
Parkinsonismo
Mioclonías
Enfermedad de Huntington
Abstract
Semiology of movement disorders is varied. They are classified by movement type and syndrome. Parkinsonism is the most prominent hypokinetic syndrome; while among hypokinetic highlight dystonia, myoclonus, tic and chorea. The etiology is diverse, predominating pathophysiologically the dysfunction of basal ganglia and its cortical connections.
Abnormal contraction of agonist and antagonist muscles takes place in dystonia, causing abnormal postures. Dystonias are classified according to the area of the body that is affected, clinical characteristics and etiology. More than twenty loci, previously named DYT loci, haven been identified in genetic dystonia.
Chorea describes involuntary, purposeless and irregular movements. Several causes can lead to choreic movements, for example genetically determined diseases. Huntington's disease is an autosomal-dominant disease caused by a pathological triplet repeat expansion in HTT gene. It is a neurodegenerative disorder co-existing with multiple movement disorders (chorea, dystonia and parkinsonism).
Primary and genetically determined dystonia as well as Huntington's disease and other primary chorea, are treated symptomatically.
Keywords
Movements disorders
Basal ganglia circuit
Chorea
Dystonía
Parkinsonism
Myoclonus
Huntington's disease
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