Acanthocytosis chorea

Acanthocytosis Chorea is a rare, neurodegenerative disorder characterized by the presence of acanthocytes in the blood and the onset of chorea, a condition that causes involuntary, irregular movements. The disorder is also known as Chorea-Acanthocytosis (ChAc) and is part of a group of conditions known as the neuroacanthocytosis syndromes.

Etiology

Acanthocytosis Chorea is caused by mutations in the VPS13A gene, which provides instructions for making a protein called chorein. This protein is involved in the movement of proteins and lipids within cells. Mutations in the VPS13A gene disrupt the normal function of chorein, leading to the symptoms of Acanthocytosis Chorea.

Symptoms

The symptoms of Acanthocytosis Chorea typically begin in early adulthood and may include muscle weakness, dystonia (a condition that causes involuntary muscle contractions), and parkinsonism (a condition that causes movement problems similar to those seen in Parkinson's disease). Individuals with Acanthocytosis Chorea may also have seizures, psychiatric disorders, and problems with speech and swallowing.

Diagnosis

Diagnosis of Acanthocytosis Chorea is based on the presence of acanthocytes in a blood sample, along with the characteristic symptoms of the disorder. Genetic testing can confirm the diagnosis by identifying a mutation in the VPS13A gene.

Treatment

There is currently no cure for Acanthocytosis Chorea, and treatment is focused on managing the symptoms of the disorder. This may include medications to control movement problems, seizures, and psychiatric symptoms, as well as physical and occupational therapy to help manage muscle weakness and dystonia.

Prognosis

The prognosis for individuals with Acanthocytosis Chorea varies. Some individuals may have a relatively mild course of the disease, while others may experience a rapid progression of symptoms. The disorder is typically progressive and life-limiting.

See also

• Neuroacanthocytosis
• Chorea
• Acanthocyte
• VPS13A