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August 1995

Dystonia and Unique Muscle Features: A 23-Year Follow-up and Correction of Diagnosis in Two Brothers

Author Affiliations

From the Department of Neurology, Division of Movement Disorders, Vanderbilt University School of Medicine, Nashville, Tenn.

Arch Neurol. 1995;52(8):825-826. doi:10.1001/archneur.1995.00540320109018

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.

Measures:  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.

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