Speech-activated Myoclonus Mimicking Stuttering in a Patient with
                        Myoclonus–Dystonia Syndrome

Isaacs, David A.; Hedera, Peter

doi:10.5334/tohm.303

Cited by 6 publications

(1 citation statement)

References 14 publications

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“…The predominant motor sign in SGCE-MD is myoclonus, presenting with very brief, "lightning-like" or "tic-tac" jerks, typically involving the upper part of the body (neck, trunk, limb), more in the proximal than distal muscles. 27,28 Less frequently, other body parts, such as the face, 7,[29][30][31] larynx, [30][31][32][33] and lower limbs, 16,20,22,23,31,[34][35][36][37][38] can be affected. The myoclonic jerks may be present at rest but are typically aggravated or elicited by action, posture, and psychological stress.…”

Section: Sgce-md: a Clinical Overviewmentioning

confidence: 99%

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

et al. 2019

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A BS TRACT: Myoclonus-dystonia is a clinical syndrome characterized by a typical childhood onset of myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric symptomatology, namely, alcohol dependence and phobic and obsessive-compulsive disorder, is also part of the clinical picture. Zonisamide has demonstrated effectiveness at reducing both myoclonus and dystonia, and deep brain stimulation seems to be an effective and long-lasting therapeutic option for medication-refractory cases. In a subset of patients, myoclonus-dystonia is associated with pathogenic variants in the epsilon-sarcoglycan gene, located on chromosome 7q21, and up to now, more than 100 different pathogenic variants of the epsilon-sarcoglycan gene have been described. In a few families with a clinical phenotype resembling myoclonus-dystonia associated with distinct clinical features, variants have been identified in genes involved in novel pathways such as calcium channel regulation and neurodevelopment. Because of phenotypic similarities with epsilon-sarcoglycan gene-related myoclonus-dystonia, these conditions can be collectively classified as "myoclonusdystonia syndromes." In the present article, we present myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations, with a focus on genetics and underlying disease mechanisms. Second, we review those conditions falling within the spectrum of myoclonus-dystonia syndromes, highlighting their genetic background and involved pathways. Finally, we critically discuss the normal and pathological function of the epsilon-sarcoglycan gene and its product, suggesting a role in the stabilization of the dopaminergic membrane via regulation of calcium homeostasis and in the neurodevelopmental process involving the cerebello-thalamo-pallido-cortical network.

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