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Paroxysmal movement disorders - practical update on diagnosis and management
Claudio M De Gusmao1,2, Laura Silveira-Moriyama2,3,4
1Department of Neurology, Harvard Medical School, Boston Children's Hospital , Boston , MA , USA.
Expert Review of Neurotherapeutics
|July 30, 2019
Summary
Paroxysmal dyskinesias and episodic ataxias are genetic disorders affecting cell membrane and synaptic function. Management guidelines are provided, highlighting carbamazepine for PRRT2-related kinesigenic dyskinesias and acetazolamide for episodic ataxia type 2.
Area of Science:
- Neurology
- Genetics
- Movement Disorders
Background:
- Paroxysmal dyskinesias and episodic ataxias often stem from genetic mutations impacting cell membrane and synaptic functions.
- Despite increasing genetic case reports, patient management relies on limited, non-systematic evidence.
Purpose of the Study:
- To present a comprehensive review of paroxysmal dyskinesias and episodic ataxias.
- To offer evidence-based recommendations for the diagnosis and management of these rare neurological conditions.
Main Methods:
- Historical and clinical review of paroxysmal dyskinesias and episodic ataxias.
- Analysis of current literature on genetic causes and therapeutic responses.
- Expert opinion on diagnostic and management strategies.
Main Results:
- PRRT2-associated paroxysmal kinesigenic dyskinesias are common and respond well to carbamazepine.
- Episodic ataxia type 2 often improves with acetazolamide.
- Familial paroxysmal non-kinesigenic dyskinesias (PNKD) show limited therapeutic response but may improve with age.
Conclusions:
- Genetic testing can guide therapy for paroxysmal dyskinesias and episodic ataxias.
- Therapeutic trials are valuable, especially in resource-limited settings.
- Deep brain stimulation is a potential option for severe, refractory cases.
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