Familial dopa-responsive cervical dystonia.
The authors present four cases from two unrelated families with young-onset predominant cervical dystonia with a dramatic sustained response to levodopa. Onset age was 12 years (range 9 to 15). Additional symptoms included postural hand tremor and laryngeal dystonia. Genetic testing for GTP cyclohydrolase I, tyrosine hydroxylase, and sepiapterin reductase was negative. These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia.
Schneider
S A
SA
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, UK.
Mohire
M D
MD
Trender-Gerhard
I
I
Asmus
F
F
Sweeney
M
M
Davis
M
M
Gasser
T
T
Wood
N W
NW
Bhatia
K P
KP
D000293:Adolescent; D000328:Adult; D000978:Antiparkinson Agents / Q000627:therapeutic use; D002230:Carbidopa / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007514:Islam; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D010375:Pedigree; D035781:Siblings; D014103:Torticollis / Q000188:drug therapy* / Q000235:genetics
D000978:Antiparkinson Agents; D007980:Levodopa; D002230:Carbidopa