Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association

Mov Disord Clin Pract. 2024 Aug;11 Suppl 2(Suppl 2):S8-S10. doi: 10.1002/mdc3.13963. Epub 2024 Jan 20.
No abstract available

Keywords: MAN2B1; alpha Mannosidosis; isolated generalized dystonia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Dystonia / drug therapy
  • Dystonia / genetics
  • Dystonic Disorders* / drug therapy
  • Dystonic Disorders* / genetics
  • Female
  • Homozygote
  • Humans
  • Levodopa* / therapeutic use
  • Male
  • Mutation, Missense*
  • alpha-Mannosidosis* / drug therapy
  • alpha-Mannosidosis* / genetics

Substances

  • Levodopa