Familial dopa-responsive cervical dystonia.
case_series · Level IV
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- Record sourced from PubMed, PMID 16505323.
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Abstract
The authors present four cases from two unrelated families with young-onset predominant cervical dystonia with a dramatic sustained response to levodopa. Onset age was 12 years (range 9 to 15). Additional symptoms included postural hand tremor and laryngeal dystonia. Genetic testing for GTP cyclohydrolase I, tyrosine hydroxylase, and sepiapterin reductase was negative. These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia.
Medical subject headings
- Levodopa
- Torticollis