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last update : 23/12/2008
Symbol DYT11
Location 7q21.3
HGNC id 3099
Name dystonia 11, myoclonic
Other name(s) myoclonic dystonia syndrome, myoclonus-dystonia
Corresponding gene SGCE
Other symbol(s) MCDT, MDS, M-D, DEL7Q21
Main clinical features
  • characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs, often alcohol-responsive
  • early-onset myoclonus (shock-like jerks) commonly associated with focal or segmental dystonia and more infrequently, with psychiatric disturbances such as panic attacks and obsessive compulsive disorder
  • Genetic determination autosomal dominant
    Related entries including essential myoclonus
    Function/system disorder neurology
    Type disease
    Gene product
    Name sarcoglycan epsilon
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein  
    missense   abnormal protein/loss of function produce proteins that are retained intracellularly and degraded by the proteasome
    nonsense   truncated protein cause the premature termination of the protein; the most common nonsense mutation R102X truncates sarcoglycan before the transmembrane domain and produces low levels of protein possibly through nonsense-mediated decay of the mutant transcript
      deletion   genomic deletion including neighbouring genes such as COL1A2, or SHFM1, DLX6 and DLX5, or KRIT1, with variable phenotypic consequences (Asmus,07; Grunevald,08;Saugier-Veber 2010)
    Remark(s) the SGCE gene is maternally imprinted
    Genotype/Phenotype correlations reduced penetrance upon maternal transmission ; in large deletions including neighbouring genes typical M-D syndrome, but also short stature, microcephaly, and mental retardation, HEPACAM2, is a good candidate for both mental retardation and microcephaly (Saugier-Weber 2010);