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.
Clinical observation of response to treatment and muscle histologic findings.
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.
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 PD, Davis TL, Robertson D, Fenichel GM. Dystonia and Unique Muscle Features: A 23-Year Follow-up and Correction of Diagnosis in Two Brothers. Arch Neurol. 1995;52(8):825–826. doi:https://doi.org/10.1001/archneur.1995.00540320109018
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