Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
Mov Disord
; 23(1): 28-34, 2008 Jan.
Article
em En
| MEDLINE
| ID: mdl-17853490
ABSTRACT
Myoclonus-dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases.
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Base de dados:
MEDLINE
Assunto principal:
Distonia
/
Mioclonia
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Itália