DYT5: Dopa-responsive dystonia (DRD): variants and differentials

Evidence-based neurology checklist on dyt5: dopa-responsive dystonia (drd): variants and differentials: DRD-plus variant: features Early onset age: earlier than in DRD Severe motor features Seizures Psychomotor retardation Recurrent hyperthermia without infections Ptosis Other DRD variants…

DRD-plus variant: features

  • Early onset age: earlier than in DRD
  • Severe motor features
  • Seizures
  • Psychomotor retardation
  • Recurrent hyperthermia without infections
  • Ptosis

Other DRD variants

Differential diagnosis of DRD

Distinguishing features of DRD from cerebral palsy (CP)

Synonym

References

  1. Wider C, Melquist S, Hauf M, et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology 2008; 70:1377-1383.
  2. Willemsen MA, Verbeek MM, Kamsteeg E-J, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 2010; 133:1810-1822.
  3. Dale RC, Melchers A, Fung VSC, Grattan-Smith P, Houlden H, Earl J. Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. Dev Med Child Neurol 2010; 52:583-586.
  4. Neville B. Congenital DOPA-responsive disorders: a diagnostic and therapeutic challenge to the cerebral palsies. Dev Med Child Neurol 2007; 49:85.
  5. De Rosa A, Carducci C, Carducci C, et al. Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD). J Neurol 2014; 261:2204-2208.  

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