Pure hypotonia in a four-year-old patient: An atypical presentation of Dopa-responsive dystonia

J Neurol Sci. 2019 Aug 15:403:125-126. doi: 10.1016/j.jns.2019.06.010. Epub 2019 Jun 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Dystonic Disorders / complications
  • Dystonic Disorders / diagnosis*
  • Dystonic Disorders / genetics*
  • Female
  • GTP Cyclohydrolase / genetics*
  • Humans
  • Muscle Hypotonia / diagnosis*
  • Muscle Hypotonia / etiology
  • Muscle Hypotonia / genetics*

Substances

  • GCH1 protein, human
  • GTP Cyclohydrolase

Supplementary concepts

  • Dystonia, Dopa-responsive