Myoclonus-dystonia: An under-recognized entity - Report of 5 cases

Neurol India. 2016 Sep-Oct;64(5):980-3. doi: 10.4103/0028-3886.190255.

Abstract

Hereditary myoclonus-dystonia (DYT 11) is caused by the epsilon-sarcoglycan (SGCE) mutation. The clinical details and investigations of cases diagnosed with myoclonus-dystonia were reviewed. We describe 5 patients (3 families) with myoclonus-dystonia diagnosed at our center. Majority of the patients had the classical phenotype with few atypical features (adult-onset disease and onset in lower limbs). Four patients carried a mutant variant in the SGCE-gene. A diagnosis of myoclonus-dystonia should be considered in cognitively normal patients with early-onset myoclonus (that may occur both at rest and/or action) with or without dystonia and with or without psychiatric-disturbances.

Publication types

  • Case Reports

MeSH terms

  • Dystonic Disorders / genetics*
  • Genotype
  • Humans
  • Mutation
  • Myoclonus
  • Phenotype
  • Sarcoglycans / genetics

Substances

  • SGCE protein, human
  • Sarcoglycans

Supplementary concepts

  • Myoclonic dystonia