Movement Disorders Associated with Chronic GM2 Gangliosidosis
- 1 January 1986
- journal article
- review article
- Published by S. Karger AG in European Neurology
- Vol. 25 (2) , 154-159
- https://doi.org/10.1159/000116100
Abstract
A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, and ataxia. Partial hexosaminidase A deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms associated with chronic GM2 gangliosidosis.Keywords
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