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

Dystonia and Unique Muscle Features: A 23-Year Follow-up and Correction of Diagnosis in Two Brothers Abstract 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. References 1. Nygaard TG, Snow BJ, Fahn S, Calne DB. Dopa-responsive dystonia: clinical characteristics and definition . In: Segawa M, ed. Hereditary Progressive Dystonia . Pearl River, NY: Parthenon Publishing; 1993:21-35. 2. Fink JK, Barton N, Cohen W, Lovenberg W, Burns RS, Hallett M. Dystonia with marked diurnal variation associated with biopterin deficiency . Neurology . 1988; 38:707-711.Crossref 3. Fenichel GM, Olson WH, Kilroy AW. Hereditary dystonia associated with unique features in skeletal muscle . Arch Neurol . 1971;25:552-559.Crossref 4. Segawa M, Nomura Y, Kase M. Diurnally fluctuating hereditary progressive dystonia . In: Vinken PJ, Bruyn GW, Klawans HL, eds. Handbook of Clinical Neurology . Amsterdam, the Netherlands: Elsevier Science; 1987;5:529-539. 5. Harwood G, Hierons R, Fletcher NA, Marsden CD. Lessons from a remarkable family with dopa-responsive dystonia . J Neurol Neurosurg Psychiatry . 1994; 57:460-463.Crossref 6. Rondot P, Aicardi J, Goutieres F, Ziegler M. Dopa-sensitive dystonia . Rev Neurol . 1992;148:680-688. 7. Fenichel GM. Cerebral influence on muscle fiber typing: the effect of fetal immobilization . Arch Neurol . 1969;20:644-649.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

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

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Publisher
American Medical Association
Copyright
Copyright © 1995 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1995.00540320109018
Publisher site
See Article on Publisher Site

Abstract

Abstract 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. References 1. Nygaard TG, Snow BJ, Fahn S, Calne DB. Dopa-responsive dystonia: clinical characteristics and definition . In: Segawa M, ed. Hereditary Progressive Dystonia . Pearl River, NY: Parthenon Publishing; 1993:21-35. 2. Fink JK, Barton N, Cohen W, Lovenberg W, Burns RS, Hallett M. Dystonia with marked diurnal variation associated with biopterin deficiency . Neurology . 1988; 38:707-711.Crossref 3. Fenichel GM, Olson WH, Kilroy AW. Hereditary dystonia associated with unique features in skeletal muscle . Arch Neurol . 1971;25:552-559.Crossref 4. Segawa M, Nomura Y, Kase M. Diurnally fluctuating hereditary progressive dystonia . In: Vinken PJ, Bruyn GW, Klawans HL, eds. Handbook of Clinical Neurology . Amsterdam, the Netherlands: Elsevier Science; 1987;5:529-539. 5. Harwood G, Hierons R, Fletcher NA, Marsden CD. Lessons from a remarkable family with dopa-responsive dystonia . J Neurol Neurosurg Psychiatry . 1994; 57:460-463.Crossref 6. Rondot P, Aicardi J, Goutieres F, Ziegler M. Dopa-sensitive dystonia . Rev Neurol . 1992;148:680-688. 7. Fenichel GM. Cerebral influence on muscle fiber typing: the effect of fetal immobilization . Arch Neurol . 1969;20:644-649.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Aug 1, 1995

References