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Head stereotypies in STXBP 1 encephalopathy
Author(s) -
Kim Young Ok,
Korff Christian M,
Villaluz Mel Michel G,
Suls Arvid,
Weckhuysen Sarah,
Jonghe Peter,
Scheffer Ingrid E
Publication year - 2013
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.12197
Subject(s) - encephalopathy , medicine , head and neck , stereotypy , movement disorders , physical medicine and rehabilitation , psychology , surgery , pathology , disease , amphetamine , dopamine
S TXBP 1 encephalopathy is associated with a range of movement disorders. We observed head stereotypies in three patients. These comprised a slow (<1Hz), high‐amplitude, horizontal, ‘figure‐of‐eight’ pattern, beginning at age 4–6 years and resulting in neck muscle hypertrophy, in two males; a faster (2–3Hz), side‐to‐side, ‘no’ movement, starting at the age of 9 years 6 months was observed in one female. Upper limb and truncal stereotypies and vocalization occurred intermittently with the head movements. The stereotypies increased with excitement but settled with concentration and sleep. Head and upper limb stereotypies are valuable clinical clues to the diagnosis of STXBP 1 encephalopathy in patients with profound impairments.