Clinical Reasoning: A 13-year-old boy presenting with dystonia, myoclonus, and anxiety

Blackburn, Joanna; Cirillo, Melissa L.

doi:10.1212/wnl.0b013e318249f6cc

Cited by 2 publications

(2 citation statements)

References 10 publications

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“…This is a case of M-D diagnosed as Tourette syndrome for 15 years that illustrates the importance of revisiting an initial diagnosis with the aid of genetic testing. This is similar to a recent case in which M-D was misdiagnosed as Tourette syndrome 26 , indicating that, although M-D is rare, it must be considered in patients with early onset myoclonus and dystonia, especially in cases with a positive family history.…”

Section: Resultssupporting

confidence: 85%

A case of myoclonus-dystonia diagnosed as Tourette Syndrome

Hosier

McKelvey

2014

DMJ

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A 28-year-old, right-handed male presented with abnormal jerky movements of the head, neck, and upper extremities since age thirteen. These movements were made worse by stress, and became particularly aggravated by writing with his left hand. Further questioning elicited that the jerks were decreased by alcohol intake, not suppressed by conscious effort, and not preceded by an urge to carry out the movement. The patient reported symptoms of obsessive-compulsive disorder, depression, social anxiety, and difficulty sleeping and was previously diagnosed with TS when the movements began. Questioning regarding family history revealed the presence of a similar movement disorder in his father.

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Section: Resultssupporting

confidence: 85%

A case of myoclonus-dystonia diagnosed as Tourette Syndrome

Hosier

McKelvey

2014

DMJ

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“…41 Dystonia is associated with myoclonus in more than half of patients, usually as torticollis or writing difficulty. 28 However, dystonia can involve other body parts such as the cranial region, 17 larynx, 31,36,42,43 and often lower limbs, 17,21,23,32,33,35,39,40,[44][45][46][47][48] the latter being predominantly in pediatric cases, in whom it may be the sole presenting feature. 35,36 Although isolated writer's cramp presenting as the first manifestation of SGCE-MD in early adulthood has been reported, 36 a screening of 43 patients with simple or complex writer's cramp failed to identify any association with SGCE mutations.…”

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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Clinical Reasoning: A 13-year-old boy presenting with dystonia, myoclonus, and anxiety

Cited by 2 publications

References 10 publications

A case of myoclonus-dystonia diagnosed as Tourette Syndrome

A case of myoclonus-dystonia diagnosed as Tourette Syndrome

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

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