Choreoacanthocytosis

Overview

Type of disease: Rare conditions

Choreoacanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Choreoacanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner.  There are currently no treatments to prevent or slow the progression of choreoacanthocytosis; treatment is symptomatic and supportive.  Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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