Neuroacanthocytosis Syndromes Treatment & Management

Updated: Oct 16, 2018
  • Author: Kenneth B V Gross, MD; Chief Editor: Selim R Benbadis, MD  more...
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Treatment

Medical Care

Medical care for neuroacanthocytosis (NA) syndromes is symptomatic and supportive. No treatment is available for genetic defects per se.

In unusual patients with substantial cardiomyopathy, congestive heart failure must be treated by the appropriate specialist. Sudden death due to ventricular arrhythmia is possible and if it occurs also must be treated by the appropriate specialist.

Traditional drugs provide temporary relief of chorea and dyskinesia in some patients.

Judicious use of antidepressants and/or sedatives may be beneficial in some patients.

Splinting and botulinum toxin may be needed to help dystonia.

Mechanical protective devices may be needed for those with repeated falls or self-injurious behavior.

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Surgical Care

Results for deep brain stimulation (DBS) have been mixed. [31] In one study by Volkmann, bilateral high-frequency stimulation of the globus pallidus (GPi) was not successful. [32] Burbaud has tried GPi stimulation on one patient with the recessive form of NA and another with McLeod syndrome. [33] In the first case, a marked decrease of belching, dyskinetic breathing, and tongue biting occurred. In both cases, a frequency-dependent response was noted with high-frequency stimulation (130 Hz), which worsened speech and distal chorea, but improved contralateral dystonia. Low-frequency stimulation (40 Hz) improved chorea but not dystonia. Burbaud also reported improvement in severe trunk spasms in a patient who received bilateral high-frequency stimulation of the motor thalamus.

Intrastriatal transplantation of fetal striatal neuroblasts has been reported to improve some motor and cognitive functions in patients with Huntington disease according to Beal. [34] Despite obvious disease parallels, whether such an approach for patients with NA is valuable is totally speculative at this time.

In later stages of the disease when dysphagia progresses, a feeding gastrostomy may be required for nutritionally compromised patients.

Tracheostomy may be needed in this same group of patients to decrease the risk of aspiration.

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Consultations

A neurologist should lead the management team.

A cardiologist should evaluate for the presence of a cardiomyopathy, particularly when dyspnea and/or ECG abnormalities are noted.

A psychiatrist should be consulted when depression and/or behavioral disturbances are significant.

A hematologist should be consulted for RBC morphology analysis and evaluation of a possible hemolytic anemia.

A gastroenterologist should be consulted for the possible lipid abnormality or when nutritional disorders such as vitamin deficiency are noted. Malabsorption syndrome, particularly in young patients with hypobetalipoproteinemic NA, will need to be ruled out.

A physiatrist should coordinate the team working on gait improvement, speech therapy, and physical therapy. Patients with NA may benefit from orthotic devices for foot deformities, walking aids for advancing motor deficits, and alternate communication modalities for severe dysarthria.

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Diet

As noted, nutritional support is an important issue, particularly later in the course of the disease.

Even in patients with only mild swallowing difficulties or in patients with mild lipid disorders, a multivitamin and supplementary vitamin E may be required.

Late in NA and its variant syndromes, the patient may be able to tolerate only a blended diet.

Solid foods can result in aspiration in patients in whom orofacial dyskinesia is prominent.

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Activity

Truncal chorea impairs gait stability in many patients with NA. Gait activity should be limited and monitored in patients with severe truncal chorea, particularly those prone to the characteristic NA cataplexy such as leg buckling attacks.

Advancing amyotrophy also limits gait in some patients, although the myopathy usually does not cause ambulation failure.

In patients with severe chorea and/or amyotrophy, a wheelchair may be required.

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