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Case Reports
. 2022 Jan 5;9(2):236-239.
doi: 10.1002/mdc3.13399. eCollection 2022 Feb.

Dystonia Due to GM3 Synthase Deficiency

Alexander S Wang  1   2 , Camilla Kilbane  1   2
Affiliations
Case Reports

Dystonia Due to GM3 Synthase Deficiency

Alexander S Wang et al. Mov Disord Clin Pract. .

Abstract

Background: Gangliosides are expressed in neuronal membranes, and play roles in neuronal differentiation and cell regulation during brain development. The ST3GAL5 gene encodes the enzyme GM3 synthase, and its deficiency causes a rare condition described to cause refractory epilepsy, profound intellectual disability, quadriplegia, choreoathetosis, and pigmentary skin changes. GM3 synthase deficiency is rarely reported to cause dystonia. We report five cases of GM3 synthase deficiency involving a dystonic phenotype.

Cases: The five reported individuals were born of unaffected consanguineous parents from Old Order Amish families. They all developed refractory epilepsy and developmental regression within the first few months of life. They exhibit variable degrees of extrapyramidal movements, including orofacial, cervical, and limb dystonia, as well as choreoathetosis.

Conclusions: We report five individuals with GM3 synthase deficiency who developed dystonic features. Dystonia has previously been reported in only one case of GM3 synthase deficiency.

Keywords: Amish; GM3; congenital; dystonia; glycosylation.

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Conflict of interest statement

No specific funding was received for this work. The authors declare that there are no additional disclosures to report.

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