Chorea-Acanthocytosis with Head Drops and Trunk Flexions
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive adult-onset neurodegenerative disorder due to VPS13A mutation of the gene encoding chorein. Clinical manifestations include mixed movement disorders, seizures, neuropathy, myopathy, autonomic features, dementia, and psychiatric disability. Because of its numerous clinical features and the availability of specialized genetic tests, clinical clues or red flags are important to assist physicians in recognizing this entity while considering other choreiform movement disorders. It has recently been suggested that flexions of the neck (presenting as head drops) as well as the trunk may be considered characteristic features of advanced ChAc.
KeywordsClinical Manifestation Characteristic Feature Movement Disorder Psychiatric Disability Trunk Flexion
The patient displays generalized chorea and tongue protrusion dystonia. While sitting, there is generalized chorea with intermittent head drops, apparently due to a sudden loss of muscle tone, together with sudden forward flexion and lateropulsion of the trunk. When asked to fold his arms, the truncal movements diminish significantly. He can also reduce the severity of head drops by putting both hands together behind his neck. Alternatively, he may stretch a towel with both hands behind his neck which also reduces the number of head drops.
Chorea-acanthocytosis w. head drops.mp4 (MP4 17,672KB)