SNP Shot: Genomic Insights

Chorea-acanthocytosis is mainly a neurological disease that causes movement problems throughout the body. The term "chorea" describes the jerky, uncontrolled movements characteristic of this disorder. Affected individuals also exhibit abnormally shaped, star-like red blood cells, a condition known as acanthocytosis. This disorder belongs to a group called neuroacanthocytoses, which are characterized by both neurological issues and abnormal red blood cells.

Besides chorea, dystonia, or involuntary muscle tensing, is another frequent symptom. This dystonia can affect muscles in the limbs, face, mouth, tongue, and throat. These muscle contractions can lead to vocal tics (like grunting), involuntary belching, and limb spasms. Chewing and swallowing can be difficult due to tongue and throat twitches. Individuals with chorea-acanthocytosis may also unintentionally bite their tongue, lips, and the inside of their mouth. Approximately half of those affected experience seizures.

Cognitive impairment, leading to difficulties with information processing, learning, and memory, can also develop in individuals with chorea-acanthocytosis. Peripheral neuropathy, characterized by reduced sensation and weakness in the arms and legs, and myopathy, or muscle weakness, may also occur. Impaired muscle and nerve function commonly causes speech difficulties, potentially leading to a complete inability to speak.

Behavioral changes are frequently seen in chorea-acanthocytosis and can sometimes be the earliest manifestation of the disease. These changes may include personality shifts, obsessive-compulsive disorder (OCD), impulsivity or a lack of self-control, and an inability to care for themselves.

The signs and symptoms of chorea-acanthocytosis typically start in early to mid-adulthood, and the movement problems worsen over time. The neurological problems associated with this condition are primarily caused by the loss of cells (atrophy) in specific brain regions.

Inheritance:

Chorea-acanthocytosis is inherited in an autosomal recessive manner. This means that a person must inherit two mutated copies of the responsible gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, usually do not exhibit any signs or symptoms of the disorder.