Medical management of myoclonus-dystonia and implications for underlying pathophysiology

Fearon, Conor, Peall, Kathryn J ORCID: https://orcid.org/0000-0003-4749-4944, Vidailhe, Marie and Fasano, Alfonso 2020. Medical management of myoclonus-dystonia and implications for underlying pathophysiology. Parkinsonism and Related Disorders 77 , pp. 48-56. 10.1016/j.parkreldis.2020.06.016

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Abstract

Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical myoclonus and less prominent dystonia. Its primary causative gene is the epsilonsarcoglycan 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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI)
Publisher:	Elsevier
ISSN:	1353-8020
Date of First Compliant Deposit:	19 June 2020
Date of Acceptance:	16 June 2020
Last Modified:	23 Nov 2024 05:15
URI:	https://orca.cardiff.ac.uk/id/eprint/132633

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