Dystonia: approach to genetic testing
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Dystonia: approach to genetic testing. Limb onset, Age <30 years, Positive family history of early onset dystonia. Fully referenced neurology checklist.
Indications for testing DYT1
- Limb onset
- Age <30 years
- Positive family history of early onset dystonia
Indications for testing DYT6
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Indications for testing other DYT genes
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Guidelines for using next generation sequencing (NGS)
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References
- van Egmond ME, Lugtenberg CHA, Brouwer OF, et al. A post hoc study on gene panel analysis for the diagnosis of dystonia. Mov Disord 2017; 32:569-575.
- Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
- Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013; 28:863-873.
- Camargos S, Cardoso F. New algorithm for the diagnosis of hereditary dystonia. Arq Neuropsiquiatr 2012; 70:715-717.
- van Egmond ME, Kuiper A, Eggink H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. JNNP 2015; 86:774-781.
