Glutathione synthetase deficiency
May. 01, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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This young man with biopsy-proven subacute sclerosing panencephalitis displays parkinsonism, bilateral (left greater than right) dystonia, and complex right arm and orofacial stereotypies. In the first video segment, he exhibits stereotypic movements with his right hand and arm, hyperorality, and exaggerated sighs and inspiratory sniffs. He maintains the left arm and hand in dystonic flexion. While walking, he displays a slow, spastic dystonic gait (requiring assistance for balance) with scissoring and toe-walking. (Contributed by Dr. Joseph Jankovic.)