What is Neuroacanthocytosis:

Neuroacanthocytosis disorder is a rare movement disorder marked by progressive muscle weakness and atrophy, progressive cognitive loss, involuntary twisting movements of the body, and spiked red blood cells associated with several inherited neurological disorders. Neuroacanthocytosis is due to degeneration of the basal ganglia (a part of the brain) and loss of neurons in the brain and spinal cord.

It has adult and childhood varieties. In adults, onset of classic symptoms is usually begins between ages 20 and 50, while in children onset is typically seen in adolescence (but may occur earlier). Adult varieties can involve the heart and immune system. Neuroacanthocytosis is typically an inherited autosomal recessive disorder and is more common in males than in females.

Synonyms of Neuroacanthocytosis:
1. Acanthocytosis-Neurologic Disorder
2. Amyotrophic Chorea with Acanthocytosis, Familial
3. Choreoacanthocytosis
4. Levine-Critchley Syndrome

Causes of Neuroacanthocytosis:

This is a very rare disorder usually inherited as an autosomal recessive genetic trait. However, the medical literature documents one family that may have inherited the disorder as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.In dominant disorders, a single copy of the disease gene (received from the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease.

Symptoms of Neuroacanthocytosis:

Symptoms of this disorder usually begin in early adult life. Abnormal red blood cells (acanthocytosis) with normal lipoproteins, as well as atrophy of muscles and uncontrolled movements of the face and body (amyotrophic chorea) are the two major symptoms of this disorder. Other symptoms include facial tics, uncontrolled muscle movement, instability when walking, seizures, biting of the tongue and lips, and changes in personality, comprehension, memory reasoning and judgment.

Diagnosis of Neuroacanthocytosis:

The diagnosis of this disorder can be made when the typical neurological features are seen, especially the movements of the face with lip and tongue biting. If there are other affected siblings this also suggests the diagnosis. Not all persons show the presence of Acanthocytosis. However, the majority of persons with Neuroacanthocytosis will show an increased presence of muscle creatine phosphokinase.

Treatment of Neuroacanthocytosis:

Treatment of this disorder is symptomatic and supportive. Antipsychotic drugs that block dopamine, such as haloperidol, can provide temporary relief from tics and chorea. Drugs used to decrease anxiety, such as diazepam and benzodiazepine, can also decrease movement disorders, which are often made worse by associated stress. Injections of botulinum toxin can relax muscles and reduce unintentional movement. Proper nutrition is required.