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Article

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

Italian journal of pediatrics - 15 Feb 2021

Aljabri Mohammed F, Kamal Naglaa M, Alghamdi Abdulrhman, Alghamdi Hamdan, Alomairi Naif

Abstract excerpt

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 properly. On assessment, he was flexing his left arm and left leg that usually followed by a back-ward fall. Diagnosis of...

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Identifiers

PMID: 33588860
DOI: 10.1186/s13052-021-00986-w
PMCID: PMC7885206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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