Abstract
BackgroundMyoclonus dystonia (MDS) is a dominantly inherited genetic disorder caused by loss-of-function mutations in the epsilon sarcoglycan gene (SGCE).Case presentationWe 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.ConclusionsOur patient and the other previously reported cases might highlight the response of SGCE mutations to carbamazepine therapy.
Highlights
Myoclonus dystonia (MDS) is extremely rare and under diagnosed problem; often missed as movement disorder [1]
It is characterized by mild to moderate dystonia along with ‘lightning-like’ myoclonic jerks [2]. It results from loss-of-function mutations in the epsilon-sarcoglycan gene (SGCE) gene coding for an integral membrane protein found in both neurons and muscle fibers [2]
MDS is inherited in an autosomal dominant pattern, SGCE is an imprinted gene [3], so only the
Summary
Myoclonus dystonia (MDS) is extremely rare and under diagnosed problem; often missed as movement disorder [1]. Introduction Myoclonus dystonia (MDS) is extremely rare and under diagnosed problem; often missed as movement disorder [1]. Those suffering from this disorder exhibit symptoms of rapid, jerky movements of the upper limbs (myoclonus), as well as distortion of the body’s orientation due to simultaneous activation of agonist and antagonist muscles (dystonia) [3]. If the mutated allele is inherited from the mother, the child is not likely to exhibit symptoms [4].
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