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MDS 2020 | KMT2B, KCTD17 and HBCA involvement in myoclonus and recessive dystonia

Patricia Maria Carvalho Aguiar, MD, PhD, Hospital Israelita Albert Einstein, São Paulo, Brazil, discusses dystonia and how, for some patients, dystonia is the main component of their Parkinson’s disease. Dr Carvalho Aguiar explains the three genes (KMT2B, KCTD17, HBCA) that are being studied for their involvement in myoclonus and recessive dystonia. Dr Carvalho Aguiar believes that understanding the molecular origins of the disease are crucial to understanding the neurophysiological symptoms and therefore treating the disease. This interview was recorded during an online conference call with The Video Journal of Neurology (VJNeurology).