Discinesia paroxística cinesigénica familiar: descripción de una familia / Familial paroxysmal kinesigenic dyskinesia. A case description

Las discinesias paroxísticas son trastornos del movimiento caracterizadas por episodios repentinos de movimientos involuntarios. Se dividen en cinesigénicas, no cinesigénicas e inducidas por el ejercicio. Los autores enfatizan la importancia de la historia clínica y de la descripción de los episodios en el diagnóstico diferencial. Adolescente de 12 años con episodios de torsión de la lengua y posturas distónicas de las extremidades superiores desencadenados por movimientos súbitos como empezar a correr o bajar escaleras y al comienzo del ejercicio, cesando espontáneamente segundos después. Algunos episodios eran desencadenados por el estrés. En la historia familiar, el padre, tío paterno y hermana también presentaban episodios paroxísticos. El examen neurológico intercrítico fue normal. Se identificó una mutación en el gen PRRT2 asociado con trastornos neurológicos como discinesia paroxística cinesigénica, convulsiones infantiles con coreoatetosis, migraña, ataxia episódica, tortícolis paroxística y retraso cognitivo. El tratamiento con carbamacepina fue eficaz

Paroxysmal dyskinesias are movement disorders characterized by sudden episodes of involuntary movements. They are divided into kinesigenic, non-kinesigenic, and exerciseinduced dyskinesias. Emphasis is made on the importance of the clinical history and fully describing the episodes in the differential diagnosis. The case is presented of a twelve year-old female with paroxysmal episodes of tongue torsion and dystonic postures of the upper limbs when start running or descending stairs and in the beginning of physical exercise, which ceased spontaneously seconds later. Some episodes were triggered by stress. In family history her father, paternal uncle, and sister also had paroxysmal movements. Interictal neurological examination was normal. Laboratory tests revealed a mutation in PRRT2 gene, which is related to neurological disorders such as paroxysmal kinesigenic dyskinesia, infantile convulsions and choreoathetosis migraine, episodic ataxia, paroxysmal torticollis, and intellectual disability. Treatment with carbamazepine was effective

[Familial paroxysmal kinesigenic dyskinesia. A case description]. / Discinesia paroxística cinesigénica familiar: descripción de una familia.

Paroxysmal dyskinesias are movement disorders characterized by sudden episodes of involuntary movements. They are divided into kinesigenic, non-kinesigenic, and exercise-induced dyskinesias. Emphasis is made on the importance of the clinical history and fully describing the episodes in the differential diagnosis. The case is presented of a twelve year-old female with paroxysmal episodes of tongue torsion and dystonic postures of the upper limbs when start running or descending stairs and in the beginning of physical exercise, which ceased spontaneously seconds later. Some episodes were triggered by stress. In family history her father, paternal uncle, and sister also had paroxysmal movements. Interictal neurological examination was normal. Laboratory tests revealed a mutation in PRRT2 gene, which is related to neurological disorders such as paroxysmal kinesigenic dyskinesia, infantile convulsions and choreoathetosis migraine, episodic ataxia, paroxysmal torticollis, and intellectual disability. Treatment with carbamazepine was effective.