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GENATLAS PHENOTYPE

last update : 02-01-2017

Symbol	DYT18
Location	1p34.2
Name	dystonia 18
Other name(s)	paroxysmal exertion-induced dyskinesia paroxysmal exertion-induced dystonia GLUT1 deficiency syndrome 2, childhood onset
Corresponding gene	SLC2A1
Other symbol(s)	PED, GLUT1DS2
Main clinical features	episodic movement disorders, that may involve disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters in any cases, accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations (PMID: 18451999))
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

. dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia (PMID: 18451999))