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Acanthocytosis chorea

Acanthocytosis chorea Characteristics and Features

The most common traits of ChAc are the facial involuntary movements. This could include the tongue, mouth, larynx and pharynx. About two-thirds of all patients suffer from vocal tics or the so-called involuntary vocalizations which could be any one of the following: spitting, routinely grinding the teeth (also called as bruxism), involuntary belching, gasping, clicking, blowing, making grumbling noises, even non-stop humming. If the condition leads to uncontrolled biting of the tongue or the lips, an eventual result would be mutilation of the affected parts. When it comes to movements, having Limb chorea is the primary disorder for individuals afflicted with ChAc. Signs include leg and arm movements (flinging), involuntary shoulder shrugging, and also thrusting of the pelvis. Having an unsteady gait or stance is also common which sometimes leads to falls (sometimes the falls are caused by buckling knees). The patientís movement could possibly be impaired. The occurrence of vicious spasms of the trunk with sudden extension or flexion movements is possible. Swallowing can also be impaired which could result into dysphagia together with reduced intake of calories and possible uncontrolled loss of weight. When the tongue protrudes, it often pushes food outside of the mouth (this might explain the weight loss). Since swallowing is uncontrollable, the patient could drool. Dysarthria is also a common characteristic and the sign is often speech slurs. The ChAc patient could become so sick that communication could be limited to mere whispering or grunting. Changes on the patientís behavior are also noticeable. It can range from mild depression to psychosis and even suicidal tendencies.

Acanthocytosis chorea Definition

The mean age of the start of chorea-acanthocystosis or ChAc is approximately at age 35. There are a few cases, though, where it can occur as early as the initial decade or it can be as late as the 70th year of life. It runs a persistent progressive course and it may end up as a major disability in just a few years. Some patients become dependent on wheelchairs or become bedridden just on the third decade. It is certain that the individual's life expectancy will be reduced; there are even cases of unexplained or sudden deaths when the patient goes through an epileptic seizure. The range of the patients' ages at death is at 28-61 years.

Acanthocytosis chorea Prevalence

The numbers of patients who suffer from Acanthocytosis chorea are approximately 500-1000 globally. There is no specific race that is affected. The reports indicate that practically anyone can be affected by this disease.

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