Dystonia in a patient with ring chromosome 21

Authors

Craig E. Hou, Department of Neurology and Neurological Surgery, Washington University School of Medicine, St Louis, Missouri 63110, USA.
Bradley L. Schlaggar
Brad A. Racette

Document Type

Article

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.

Medical Subject Headings

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, drug therapy)

Publication Date

12-1-2003

Publication Title

Movement disorders : official journal of the Movement Disorder Society

ISSN

0885-3185

Volume

18

Issue

12

First Page

1547

Last Page

9

PubMed ID

14673898

Digital Object Identifier (DOI)

10.1002/mds.10621

Recommended Citation

Hou, Craig E.; Schlaggar, Bradley L.; and Racette, Brad A., "Dystonia in a patient with ring chromosome 21" (2003). Neurology. 1119.
https://scholar.barrowneuro.org/neurology/1119