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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-01-2017
Location 1p35.3
Name dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Other name(s) dystonia 29
Corresponding gene MECR
Other symbol(s) DYT29
Main clinical features
  • neurologic disorder characterized by onset of involuntary movements in the first decade of life; optic atrophy develops around the same time or slightly later; severity is variable
  • mildly delayed motor development, and variable features included facial dystonia, lower limp spasticity with hyperreflexia, myoclonus, chorea, dyskinesias, dysarthria, and dysphagia
  • brain imaging shows abnormalities in the basal ganglia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease