SGCE Myoclonus Dystonia: A Case Report

TL;DR

This case report describes a rare genetic movement disorder in a young child caused by a mutation in the SGCE gene, highlighting the importance of genetic testing for early diagnosis.

Contribution

The paper presents a rare case of SGCE myoclonus dystonia in a 2-year-old with no family history, contributing to clinical awareness and understanding of the condition.

Findings

A 2-year-old female with dystonia and myoclonus was found to have a pathogenic SGCE gene variant.

The patient showed improvement with clonazepam, supporting its use in treating SGCE-related symptoms.

Early-onset dystonia and myoclonus should prompt consideration of SGCE myoclonus dystonia.

Abstract

SGCE myoclonus dystonia is a rare genetic movement disorder caused by mutations in the SGCE gene. It typically presents in childhood and is characterized by myoclonus and dystonia. The inheritance pattern is autosomal dominant with maternal imprinting. Patients often exhibit associated psychiatric disorders, although cognitive function remains intact. Treatment includes antiseizure medications for myoclonus and anticholinergic agents or botulinum toxin for dystonia. Deep brain stimulation may be used for severe cases.

We present the case of a 2-year-old female who developed dystonia in her lower limbs over eight months, followed by myoclonus affecting her trunk and extremities. She met her developmental milestones and had no family history of similar conditions. Genetic testing revealed a pathogenic variant of the SGCE gene. She showed improvement with clonazepam.

Myoclonus dystonia should be considered in patients presenting with early-onset myoclonus and dystonia. Genetic testing can confirm the diagnosis by identifying SGCE gene mutations. We hope this case increases awareness of SGCE myoclonus dystonia and encourages further research.