Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)28-34
Number of pages7
JournalMovement Disorders
Volume23
Issue number1
DOIs
Publication statusPublished - Jan 15 2008

Keywords

  • ε-sarcoglycan gene
  • Clinical features
  • Myoclonus-dystonia
  • Neurophysiology
  • Pediatric

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Fingerprint

Dive into the research topics of 'Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families'. Together they form a unique fingerprint.

Cite this