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Updated: Mar 26, 2026

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis
Published on: November 21, 2013
Writer's cramp as a presentation of L-2-hydroxyglutaric aciduria
Pichet Termsarasab1, Steven J Frucht1
1Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, 5 East 98th St, New York, 10029 NY USA.
Abstract:
L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom presented with writer's cramp followed by dystonia of the other hand. An elevated plasma lysine, highly elevated urine 2-hydroxyglutaric acid, and MRI with characteristic findings (leukoencephalopathy of bilateral subcortical white matter sparing central white matter) suggested the diagnosis, which was confirmed by genetic testing.
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