Choreoacanthocytosis (VPS13A disease): A Patient Guide

Choreoacanthocytosis, increasingly known as VPS13A disease, is an ultra-rare, inherited neurological condition that affects the way the brain controls movement and behavior ^[1]. It is a progressive disorder, meaning symptoms tend to change and develop over time as certain nerve cells in the brain are affected ^[2]. Because it is so rare, many families spend years searching for an answer before receiving a definitive diagnosis through genetic testing ^[3].

The condition is named for two of its most visible features: chorea—involuntary, irregular “dance-like” movements—and acanthocytosis, which refers to irregular, spiky red blood cells that can sometimes be seen under a microscope ^[4]. However, doctors now recognize that the condition involves much more than just these two signs. It often includes orolingual dyskinesia, which are forceful involuntary movements of the tongue and jaw that can lead to accidental biting of the lips and cheeks, as well as feeding dystonia, which makes swallowing food a significant challenge ^[2].

Beyond movement, the condition can affect many parts of the body and mind. Some people experience seizures, which may even be the first sign of the disease, while others may notice muscle weakness, a loss of sensation in the limbs, or changes in mood and personality ^[5][6]. Because the symptoms are so varied, a definitive diagnosis cannot rely on a blood smear alone; instead, it requires genetic testing to identify biallelic pathogenic or likely pathogenic variants in the VPS13A gene ^[7]. This gene is responsible for producing a protein called chorein, which helps maintain the health of cell membranes ^[8].

While there is currently no cure to stop the progression of VPS13A disease, there is a great deal that can be done to manage it. An integrated, multidisciplinary approach is the standard of care, bringing together neurologists, speech therapists, and other specialists to address each symptom ^[9]. From advanced options like Deep Brain Stimulation (DBS) for movement control at expert centers, to specialized dental guards and dietary adjustments for safer eating, these interventions are designed to protect your safety and improve your day-to-day quality of life ^[10][11]. Through careful management and a strong care team, patients and families can find ways to navigate the challenges of this rare condition.