Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child

Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child

Abstract Background Myoclonus dystonia (MDS) is a dominantly inherited genetic disorder caused by loss-of-function mutations in the epsilon sarcoglycan gene (SGCE). Case presentation We here in report a twenty months old Saudi boy who presented to us with a concern that the child is unable to walk p...

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Bibliographic Details
Main Authors: Mohammed F. Aljabri, Naglaa M. Kamal, Abdulrhman Alghamdi, Hamdan Alghamdi, Naif Alomairi
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Italian Journal of Pediatrics
Subjects:
Myoclonus-dystonia
Sarcoglycan gene
Carbamazepine
Online Access:https://doi.org/10.1186/s13052-021-00986-w

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