Genetic basis:
(1) mutations in SLC2A1, affecting the glucose transport GLUT-1, with autosomal dominant inheritance
(2) mutations in DLAT, affecting pyruvate dehydrogenase complex E2
(3) other genes affecting glucose transport
Clinical features:
(1) family members affected
(2) dyskinesia (choreoathetosis, dystonia, bizarre movements) affecting lower limbs, hands or other sites following exercise and lasting several minutes
(3) variable epilepsy
(4) variable dysarthria
The patient usually recovers after resting several minutes.
Therapy may include clonazepam, carbamazepine and the ketogenic diet.
The patient may be misdiagnosed as having a psychogenic movement disorder.
