MDS Podcast Myoclonus Series: Myoclonus dystonia: Motor & non-motor symptoms and the effect of DBS
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Jun 16, 2025 Professor Kathryn Peall, a leading expert in myoclonus dystonia from Cardiff University, discusses the complexities of this condition, touching on both motor and non-motor symptoms. She sheds light on the genetic factors, particularly the role of the SGCE gene, and how it affects clinical presentation. The conversation also highlights the effectiveness of deep brain stimulation (DBS) as a treatment, underlining its potential when applied early, especially in children. Peall emphasizes the need for a more nuanced understanding of the interplay between psychiatric issues and motor symptoms.
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Myoclonus Dystonia Overview
- Myoclonus dystonia primarily affects the upper body with distinctive myoclonic jerks and dystonia, mostly starting in early childhood.
- Its genetics involve the SGCE gene, which is maternally imprinted, complicating family history assessment.
Psychiatric Symptoms as Phenotype
- Psychiatric symptoms in myoclonus dystonia are not merely a reaction to living with the disorder; some appear before motor symptoms.
- OCD and anxiety are prevalent and suggest an intrinsic phenotype component.
Early DBS Recommendation for Treatment
- Consider deep brain stimulation (DBS) early once diagnosis is confirmed because it's highly effective for myoclonus dystonia.
- Targeting the Globus Pallidus Internus or VIM nucleus varies, with myoclonus showing better improvement than dystonia.