Dystonia in a patient with ring chromosome 21

Mov Disord. 2003 Dec;18(12):1547-9. doi: 10.1002/mds.10621.

Abstract

Dystonia associated with chromosomal abnormalities is typically attributed to chromosomal deletions. We describe a patient with ring chromosome 21, with karyotype 46XX,r(21)(p11.2q22.3); 46,XX,dic r(21)(p11.2q22.3); 45, XX, -21, who developed childhood onset cervical dystonia.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple
  • Botulinum Toxins, Type A / therapeutic use
  • Child
  • Chromosomes, Human, Pair 21 / genetics*
  • Dystonia / genetics*
  • Female
  • Humans
  • Karyotyping
  • Neuromuscular Agents / therapeutic use
  • Point Mutation / genetics
  • Ring Chromosomes*
  • Torticollis / diagnosis*
  • Torticollis / drug therapy

Substances

  • Neuromuscular Agents
  • Botulinum Toxins, Type A