title: GM1 gangliosidosis type 3 with severe jaw-closing impairment.
abstract: The patient had adult GM1 gangliosidosis (type 3) with severe impairment of mastication caused by dystonia of anterior digastric muscles (jaw-opener) on clenching. This is the first report on jaw dystonia severe enough to cause the masticatory impairment in adult GM1 gangliosidosis. The discordance of closing and opening muscles during mastication might be caused by a basal ganglia lesion in this disease.
authors.affiliation: Second Department of Internal Medicine, Fukui Medical School, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Hirayama
authors.forename: Y
authors.initials: Y
authors.lastname: Kitagawa
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
authors.forename: A
authors.initials: A
authors.lastname: Tokuda
authors.forename: T
authors.initials: T
authors.lastname: Mutoh
authors.forename: T
authors.initials: T
authors.lastname: Hamano
authors.forename: T
authors.initials: T
authors.lastname: Aita
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
mesh_terms: D000328:Adult; D004421:Dystonia / Q000150:complications* / Q000503:physiopathology; D004576:Electromyography; D005347:Fibroblasts / Q000201:enzymology; D016537:Gangliosidosis, GM1 / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007571:Jaw Diseases / Q000209:etiology* / Q000503:physiopathology; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008409:Mastication; D017354:Point Mutation; D001616:beta-Galactosidase / Q000235:genetics
chemical_list: D001616:beta-Galactosidase