Child Neurology: Myoclonus-dystonia in Russell-Silver Syndrome: Two syndromes caused by one genetic defect

A 14-year-old girl presented to our pediatric neurology clinic with complaints of hand jerks noticed since age 6. The girl reported jerky hand movements that became more severe with time and interfered with daily tasks, particularly eating and writing. Jerks worsened with action and with sudden sound stimulus, were not voluntarily suppressed, and sometimes resulted in accidental item dropping. Responsiveness to alcohol was unknown.

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