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Juvenile progressive dystonia: A new phenotype of G M2 Gangliosidosis
Author(s) -
Meek David,
Wolfe Leonhard S.,
Andermann Eva,
Andermann Frederick
Publication year - 1984
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410150408
Subject(s) - gangliosidosis , dystonia , medicine , juvenile , pediatrics , dysphagia , endocrinology , disease , surgery , biology , psychiatry , genetics
A 10‐year‐old boy developed progressive dystonia and dementia. His symptoms had begun at age 2½ years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric. He had dysphagia and urinary incontinence, and functioned at a 4‐year‐old level of mental development. The mean percentages of β‐hexosaminidase A measured in serum, leukocytes, and fibroblasts by the heat denaturation method, each on three separate assays, were 5.9,9.8, and 13.0%, respectively. These values are higher than in Tay‐Sachs disease but are similar to levels seen in late‐onset or adult cases of G M2 gangliosidosis. This patient appears to represent a new phenotype of juvenile G M2 gangliosidosis having dystonia as the dominant symptom.