Acanthocytosis with Neurological Disorder

Acanthocytosis with Neurological Disorder

Article
Brain & Nerve
Behavioral & Mental Health
+3
Contributed byKrish Tangella MD, MBAMar 11, 2018

The topic Acanthocytosis with Neurologic Disorder you are seeking is a synonym, or alternative name, or is closely related to the medical condition Chorea-Acanthocytosis.

Quick Summary:

  • Chorea-Acanthocytosis (ChAc) is an uncommon, genetic, and primarily neurological disorder. The disorder is caused by mutation(s) in the VPS13 gene (also known as the CHAC gene), which codes for a certain protein ‘chorein’. The exact function of this protein is unclear
  • As the name of the disorder indicates, it is composed of 2 components - ‘chorea’ and ‘acanthocytosis’
    • Chorea is a neurological disorder that results in abnormal and repetitive movements of various parts of the body. These movements are uncontrolled and characterized by jerky actions
    • Acanthocytosis is a disorder of red blood cells resulting in abnormal shape of red cells. The red cells normally have a smooth outer surface. In acanthocytosis, the red cells have abnormal spikes in the outer surface, which affect their function
  • Apart from movement problems, individuals with this disorder also have abnormal muscle tone called dystonia, in which the muscles of the face, hands, legs, tongue, and throat are affected
  • Blood tests (including examination of blood under the microscope), imaging studies, and nerve biopsy are some methods that may be employed to diagnose the condition
  • The condition is progressive and the treatment is generally geared toward supportive therapies to improve the quality of life of those affected
  • In many cases, the prognosis is poor for individuals with Chorea-Acanthocytosis, due to shortened life expectancies. Also, since Chorea-Acanthocytosis is a genetic disorder, there are no preventive methods or guidelines currently available for this condition

Please find comprehensive information on Chorea-Acanthocytosis regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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