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The DYT1 Phenotype and Guidelines for Diagnostic Testing Neurol 54:1746-1753,1718, Bressman,S.B.,et al, 2000 See this aricle in Pubmed Article Abstract To develop diagnostic testing guidelines for the DYTI GAG deletion in the Ashkenazi Jewish (AJ and non-Jewish (NJ) primary torsion dystonia (PTD) populations and to determine the range of dystonic features in affected DYTI deletion carriers. Diagnostic DYTI testing in conjunction with genetic counseling is recommended for patients with PTD with onset before age 26 years, as this single criterion detected 100% of clinically ascertained carriers, with specificities of 43% to 63%. Testing patients with onset after age 26 years also may be warranted in those have an affected relative with early onset, as the only carriers we observed with onset at age 26 or later were genetically ascertained relatives of individuals whose symptoms started before age 26 years.

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(click to filter results - removes previous filter) dystonia dystonia musculorum deformens dystonia musculorum deformens,carrier DYT1 mutation genetic counselling neurologic disease,diagnoses of

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