Chorea-acanthocytosis
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(neuroacanthocytosis)
Very rare. Autosomal recessive transmission of a mutation of VPS13A gene (9q21.2.)
Association of an acanthocytosis of red cells with a neurodegenerative syndrome that begins between 20 and 30 years.
Neurological degradation presents as:
- dystonia with chorea
- violent orofacial movements leading to self-harm
- muscle weakness
Anesthetic implications:
according to the neurological symptomatology
References:
Updated: February 2017