DYT5: Dopa-responsive dystonia (DRD): clinical features

Evidence-based neurology checklist on dyt5: dopa-responsive dystonia (drd): clinical features: Genetics This is caused by mutations in the GTP cyclohydrolase 1 (GTPCH1) gene This is on chromosome 14 The transmission is autosomal dominant More than 100 mutations have been described Point mutations…

Genetics

  • This is caused by mutations in the GTP cyclohydrolase 1 (GTPCH1) gene
  • This is on chromosome 14
  • The transmission is autosomal dominant
  • More than 100 mutations have been described
  • Point mutations occur in 54% of cases and deletions in 8%

Pathology

Epidemiology

Features of limb dystonia

Features of postural tremor

Other dystonic features

Associated clinical features

Synonym

References

  1. Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003; 54 (suppl 6):S32-S45.
  2. Tanabe LM, Kim CE, Alagem N, Dauer WT. Primary dystonia: molecules and mechanisms. Nat Rev Neurol 2009; 5:598-609.
  3. Trender-Gerhard I, Sweeney MG, et al. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. JNNP 2009; 80:839-845. 
  4. 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.
  5. Zirn B, Steinberger D, Troidl C, et al. Frequency of GCH1 deletions in dopa-responsive dystonia. JNNP 2008; 79:183-186.
  6. And 8 more. Subscribe to see the full list

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