Michael Zech

3 weeks ago | movementdisorders.onlinelibrary.wiley.com | Thomas Wirth |Kishore Kumar |UNSW Medicine |Michael Zech

Significant progress in genomic methodologies has led to the identification of a broad spectrum of genetic defects linked to dystonia.1 Current advances in sequencing approaches have improved our ability to uncover unique and recurrent variations underlying different dystonic syndromes, resulting in a growing catalog of molecularly defined monogenic entities.2 Despite this, at least half of patients with a suspected inherited form of dystonia remain undiagnosed.3 Broadly, conditions that...