Neuroacanthocytosis

Neuroacanthocytosis is a rare movement disorder. It has adult and childhood types. In adults, onset of symptoms usually begins between ages 20 and 50. In children, onset is often seen in adolescence, but it may occur earlier. Adult varieties can involve the heart and the body's natural defense system (immune system). It is more common in males than in females.

CAUSES

It is typically an inherited disorder. The disorder is due to:

  • Degeneration of the part of the brain that helps control movement (basal ganglia).

  • Loss of neurons in the brain and spinal cord.

  • Specific gene defects.

SYMPTOMS

  • Muscle weakness and decline (atrophy).

  • Progressive thought process (cognitive) loss.

  • Involuntary twisting movements of the body (chorea).

  • Facial tics.

  • Uncontrolled muscle movement.

  • Unstable walking.

  • Twitching or shaking (seizures).

  • Biting of the tongue and lips.

  • Changes in personality, comprehension, and judgement.

TREATMENT

Treatment is based on symptoms and is supportive. Treatment can include:

  • Antipsychotic drugs that block dopamine can provide temporary relief from tics and chorea.

  • Drugs used to decrease anxiety can also decrease movement disorders. Those disorders are often made worse by stress.

  • Injections of botulinum toxin can relax muscles and reduce unintentional movement.

  • Other drug therapy may include anticonvulsants and antidepressants.

  • Proper nutrition is required. A feeding tube may be needed for some patients as the disorder gets worse.

  • Speech therapy and physical therapy may provide some relief to some patients.