A Patient with Genetically Confirmed Myoclonus-Dystonia Responded to Anticholinergic Treatment and Improved Spontaneously
Journal of Clinical Neurology
;
: 231-232, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-111082
ABSTRACT
BACKGROUND:
The various medical treatments applied to myoclonus-dystonia patients with a mutation of the epsilon-sarcoglycan gene (SGCE) have not been beneficial in most cases. Most patients experience progressive deterioration or static clinical courses, with only rare cases of spontaneous remission. CASE REPORT A 19-year-old girl presented with a 14-year history of myoclonus and dystonia that severely affected her left arm, neck, and trunk. Genetic studies showed a mutation in SGCE [deletion in exon 6 (c.771_772delAT, Cys258X)]. Both myoclonus and dystonia responded to anticholinergic treatment for 7 years and improved spontaneously.CONCLUSIONS:
The possibility of spontaneous improvement should be kept in mind when considering the therapeutic strategy in myoclonus-dystonia patients, especially when contemplating deep-brain stimulation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Braço
/
Remissão Espontânea
/
Éxons
/
Antagonistas Colinérgicos
/
Sarcoglicanas
/
Distonia
/
Mioclonia
/
Pescoço
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Clinical Neurology
Ano de publicação:
2011
Tipo de documento:
Artigo
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