Nota Clínica

Hereditary progressive LevoDopa Sensible: Segawa’s syndrome

J. Grippo, A. La Fuente, S.M. Corral, T. Grippo [REV NEUROL 2002;34:933-936] PMID: 12134322 DOI: https://doi.org/10.33588/rn.3410.2002011

OPEN ACCESS

Volumen 34 | Number 10 | Nº of views of the article 14.662 | Nº of PDF downloads 1.015 | Article publication date 16/05/2002

Download PDF Castellano Citation Search in PubMed

Share in:

Go to another issue

ABSTRACT

INTRODUCTION Hereditary progressive childhood dystonia with diurnal fluctuation of symptoms, belongs to the dopa responsive dystonias. It is dominantly inherited with variable penetrance, with deficiency in the cyclohydrolase I GTP gene. OBJECTIVE. Levodopa treatment is useful and diagnosis may be done on fluctuant dystonia in the childhood. CASE REPORTSS. We present four patients, one boy and three girls (two sisters) between 7 and 17 years of age. Neurological symptoms appears at 5, 15, 2.5 and 4 years of age respectively, with incoordination of movements ataxo-paretic gait and postural dystonia. Symptoms were progressive with diurnal fluctuation. All laboratory test and image diagnosis were normal. Levodopa response, with lower doses (30-60 mg/day), were excellent. The four patients respectively are asymptomatic after 8, 4, 6 and 5 years of treatment.

CONCLUSIONS Hereditary progressive dystonia, with diurnal fluctuations is dopa-responsive at lower doses, with neurological normalization and without side effects during a prolongated treatment. KeywordsChildhood dystonia Hereditary progressive dystonia No side effects CategoriesTrastornos del movimiento

FULL TEXT (solo disponible en lengua castellana / Only available in Spanish)

Acceso directo al último número

Último Podcast

Nota Clínica

Hereditary progressive LevoDopa Sensible: Segawa’s syndrome