A Case Report of Siblings with Dystonia: A Potential Link Between DYT11 Mutation and Platelet Dysfunction

• Published in: Neurology India Vol. 70; no. 1; pp. 402 - 404
• Main Authors: Damante, Mark, Ganguly, Ranjit, Huntoon, Kristin, Kraut, Eric, Deogaonkar, Milind
• Format: Journal Article
• Language: English
• Published: India Wolters Kluwer India Pvt. Ltd 01-01-2022; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd
• Subjects: Blood platelets; Brothers and sisters; Case reports; Case studies; Dystonia; Dystonia - blood; Dystonia - genetics; Dystonic Disorders - blood; Dystonic Disorders - genetics; Female; Gene mutations; Genetic aspects; Health aspects; Humans; Mutation; Risk factors; Sarcoglycans - blood; Sarcoglycans - genetics; Siblings; Thrombocytopenia; India; myoclonus dystonia syndrome; sarcoglycanKey Message: MDS patients may have an associated bleeding risk that can be explained by mutated ε-sarcoglycan; Bleeding risk; DBS; dystonia; sarcoglycan
• ISSN: 0028-3886; 1998-4022
• DOI: 10.4103/0028-3886.338650

Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder due to a mutated epsilon-sarcoglycan gene (SGCE) at the dystonia 11 (DYT11) locus on chromosome 7q21-31. ε-sarcoglycan has been identified in vascular smooth muscle and has been suggested to stabilize the capillary system. This report describes two siblings with MDS treated with bilateral globus pallidus interna deep brain stimulation. One patient had a history of bleeding following dental procedures, menorrhagia, and DBS placement complicated by intraoperative bleeding during cannula insertion. The other sibling endorsed frequent epistaxis. Subsequent procedures were typically treated perioperatively with platelet or tranexamic acid transfusion. Hematologic workup showed chronic borderline thrombocytopenia but did not elucidate a cause-specific platelet dysfunction or underlying coagulopathy. The bleeding history and thrombocytopenia observed suggest a potential link between MDS and platelet dysfunction. Mutated ε-sarcoglycan may destabilize the capillary system, thus impairing vasoconstriction and leading to suboptimal platelet aggregation.