Medical management of myoclonus-dystonia and implications for underlying pathophysiology

Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical myoclonus and less prominent dystonia. Its primary causative gene is the epsilon-sarcoglycan gene but the syndrome of “myoclonic dystonia” has been shown to be a heterogeneous group of genetic disorders. The underlying pathophysiology of myoclonus-dystonia is incompletely understood, although it may relate to dysfunction of striatal monoamine neurotransmission or disruption of cerebellothalamic networks (possib ly via a GABAergic deficit of Purkinje cells).

Source: Parkinsonism and Related Disorders - June 22, 2020 Category: Neurology Authors: Conor Fearon, Kathryn J. Peall, Marie Vidailhet, Alfonso Fasano Tags: Review article Source Type: research