Dystonia and unique muscle features. A 23-year follow-up and correction of diagnosis in two brothers.
OBJECTIVE
To provide follow-up information and a corrected diagnosis on two brothers who were primarily described in the ARCHIVES in 1971 as having had a genetic dystonia with unusual muscle biopsy features.


METHODS
Clinical observation of response to treatment and muscle histologic findings.


RESULTS
These brothers are an unusual example of dopa-responsive dystonia that was present since birth. The muscle histopathologic features were caused by an abnormal cerebral influence on the developing motor unit and were not a primary abnormality. A repeated muscle biopsy performed 1 year after treatment continued to show the same pattern of fiber-type abnormalities.


CONCLUSIONS
Dopa-responsive dystonia can be present from birth or early infancy. The response to levodopa is excellent even after a delay in treatment of more than 20 years. Intrauterine dystonia can cause a predominance of small type 2 fibers. A trial of levodopa/carbidopa is indicated in all patients with a childhood-onset dystonia or gait disturbance.
Charles
P D
PD
Department of Neurology, Vanderbilt University School of Medicine, Nashville, Tenn., USA.
Davis
T L
TL
Robertson
D
D
Fenichel
G M
GM
D000328:Adult; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use*; D004351:Drug Resistance; D004421:Dystonia / Q000188:drug therapy* / Q000473:pathology*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology
D004295:Dihydroxyphenylalanine