Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.
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.
Oates
C E
CE
Bosch
E P
EP
Hart
M N
MN
D000328:Adult; D001264:Athetosis / Q000175:diagnosis; D002819:Chorea / Q000175:diagnosis; D004421:Dystonia / Q000175:diagnosis; D005678:G(M2) Ganglioside; D005733:Gangliosidoses / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis*; D013577:Syndrome
D005678:G(M2) Ganglioside