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Characteristic head drops and axial extension in advanced chorea‐acanthocytosis
Author(s) -
Schneider Susanne A.,
Lang Anthony E.,
Moro Elena,
Bader Benedikt,
Danek Adrian,
Bhatia Kailash P.
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23052
Subject(s) - chorea , dystonia , medicine , trunk , movement disorders , neuroscience , psychology , pediatrics , pathology , biology , ecology , disease
Chorea‐acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea‐acanthocytosis. © 2010 Movement Disorder Society