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L dopa-responsive dystonia

Genetics: 1) autosomal dominant inheritance 2) gene maps to chromosome 14q Clinical manifestations: 1) onset generally in childhood 2) bradykinesia 3) rigidity Management: - low-dose L-dopa/carbidopa

General

dystonia

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2360