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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 properly. On assessment, he was flexing his left arm and left leg that usually followed by a back-ward fall. Diagnosis of dystonia induced with initiation of movement was suggested that later on proven genetically to be pathogenic mutation of sarcoglycan gene. Carbamazepine therapy was initiated with dramatic response. Response was maintained at 4?years follow up.

Conclusions

Our patient and the other previously reported cases might highlight the response of SGCE mutations to carbamazepine therapy.

SUBMITTER: Aljabri MF

PROVIDER: S-EPMC7885206 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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

Aljabri Mohammed F MF Kamal Naglaa M NM Alghamdi Abdulrhman A Alghamdi Hamdan H Alomairi Naif N

Italian journal of pediatrics 20210215 1

<h4>Background</h4>Myoclonus dystonia (MDS) is a dominantly inherited genetic disorder caused by loss-of-function mutations in the epsilon sarcoglycan gene (SGCE).<h4>Case presentation</h4>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 dystonia induced with initiation of movement was suggested that later on ...[more]

PMID: 33588860

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