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Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.

ABSTRACT: Late-onset Tay-Sachs disease (LOTS) is a rare autosomal-recessive genetic disorder caused by insufficient activity of the lysosomal enzyme, beta-hexosaminidase A, resulting in intracellular accumulation of gangliosides in the central nervous system. Clinical manifestations can include unsteadiness in gait, muscle weakness, cognitive dysfunction, psychiatric disturbance, and dysarthric speech. The variable presentation of these symptoms, combined with the late onset of the disease, often results in misdiagnosis. We present video of 3 sibling cases of LOTS in which a dysarthric stutter was the sole presenting symptom in order to better characterize the phenotype of this disease.

SUBMITTER: Grim KK

PROVIDER: S-EPMC6178690 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.

Grim Kristina K KK Phillips Gregory D GD Renner David R DR

Movement disorders clinical practice 20150630 3

Late-onset Tay-Sachs disease (LOTS) is a rare autosomal-recessive genetic disorder caused by insufficient activity of the lysosomal enzyme, beta-hexosaminidase A, resulting in intracellular accumulation of gangliosides in the central nervous system. Clinical manifestations can include unsteadiness in gait, muscle weakness, cognitive dysfunction, psychiatric disturbance, and dysarthric speech. The variable presentation of these symptoms, combined with the late onset of the disease, often results ...[more]

PMID: 30363497

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