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- W3037552169 startingPage "48" @default.
- W3037552169 abstract "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 (possibly via a GABAergic deficit of Purkinje cells). A broad range of oral medical therapies have been used in the treatment of myoclonus-dystonia with a varying response, and limited data relating to efficacy and tolerability, yet this condition responds dramatically to alcohol. Few well conducted randomized controlled trials have been undertaken leading to an empirical ad hoc approach for many patients. We review the current evidence for pharmacological therapies in myoclonus-dystonia, discuss implications for underlying pathogenesis of the condition and propose a treatment algorithm for these patients." @default.
- W3037552169 created "2020-07-02" @default.
- W3037552169 creator A5010835736 @default.
- W3037552169 creator A5013312257 @default.
- W3037552169 creator A5014472577 @default.
- W3037552169 creator A5052627702 @default.
- W3037552169 date "2020-08-01" @default.
- W3037552169 modified "2023-10-18" @default.
- W3037552169 title "Medical management of myoclonus-dystonia and implications for underlying pathophysiology" @default.
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