[Dopa-responsive dystonia--a hereditary dystonia easy to treat].
BACKGROUND
Dopa-responsive dystonia is a genetically determined disorder with early onset. The dystonia usually manifests as a disturbance of gait with fatigue and may be confused with spasticity. The diagnosis is based on clinical recognition and response to l-dopa, which is usually complete and long lasting. The most common genetic defect involves the gene for GTP cyclohydroxylase I.


METHODS
We describe a Norwegian family in which three generations are affected.


RESULTS
All those affected had gait disturbance from childhood; the disturbance became worse during the day and after exercise. Clinical examination revealed reduced fine motor skills and brisk tendon reflexes. Dystonic posturing of one or both legs could be seen during walking. All patients were treated with l-dopa with excellent effect.


CONCLUSIONS
Though uncommon, this disorder is an important differential diagnosis in children with gait disturbance, particularly in those suspected as having spastic paraparesis.
Farbu
Elisabeth
E
Nevrologisk avdeling Haukeland Sykehus 5021 Bergen. elisabeth.farbu@haukeland.no
Bindoff
Laurence A
LA
D000293:Adolescent; D000328:Adult; D000978:Antiparkinson Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D002648:Child; D003937:Diagnosis, Differential; D015259:Dopamine Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D020821:Dystonic Disorders / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D000978:Antiparkinson Agents; D015259:Dopamine Agents; D007980:Levodopa; D006136:GTP Cyclohydrolase
Doparesponsiv dystoni--en arvelig dystoni som er lett å behandle.