[MIM 200 150]

(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