Paroxysmal exercise-induced dyskinesia

Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:

Definition

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Aetiology

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Disorder Clinical features Associated features Investigations Disease modifying treatment available Time critical
GLUT1 deficiency syndrome Absence seizure
Pyruvate dehydrogenase complex deficiency


Clinical features


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Investigations


MRI of the head can be helpful for identifying the underlying cause. Neuroimaging is expected to be normal in GLUT1 deficiency syndrome whereas in pyruvate dehydrogenase complex deficiency or mitochondrial disorders abnormalities may be seen. CSF lactate levels can be helpful. Low lactate levels are seen in GLUT1 deficiency syndrome whereas in pyruvate dehydrogenase complex deficiency CSF lactate may be elevated. Given the genetic basis of a number of the causes of paroxysmal exercise-induced dyskinesias genetic testing can be helpful.

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Laboratory Investigation Result

Research


Open questions

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