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.
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families / N. Nardocci, G. Zorzi, C. Barzaghi, F. Zibordi, C. Ciano, D. Ghezzi, B. Garavaglia. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - 23:1(2008), pp. 28-34. [10.1002/mds.21715]
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
D. Ghezzi;
2008
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.File | Dimensione | Formato | |
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