Table 4.

Treatment of Manifestations in Individuals with McLeod Neuroacanthocytosis Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
Chorea
  • Dopamine antagonists incl tiapride, clozapine, or quetiapine
  • Dopamine depletor: tetrabenazine
Avoid use of typical neuroleptics (e.g., haloperidol) because of risk of extrapyramidal adverse events.
Seizures Anti-seizure medication 1Avoid long-term use of benzodiazepines because of possible negative effect on neuromuscular system.
Neuromuscular
  • PT
  • Sufficient supplementation of calories & protein
  • Supplementation of vitamins D & B12 if needed
  • Endurance exercise as tolerated may be helpful.
  • Avoid strength exercises, esp of the eccentric type.
Cognitive Cognitive training is probably rarely indicated.Consider counseling as needed based on daily living &/or work-related requirements, incl job alternatives.
Psychiatric Standard treatment based on manifestationExtended & continuous multidisciplinary psychosocial support for affected persons & families
Cardiac Standard treatment based on clinical &/or EKG presentationConsider: placement of prophylactic cardiac pacemaker/implantable cardioverter-defibrillator; heart transplant
Hematologic Avoid transfusion of Kx+ homologous blood products.
  • Avoid repetitive blood transfusions.
  • Consider cryopreservation of autologous or homologous blood for future use.
Family support
& resources 		Eval of needs every visit & involvement of respective local services when neededAdvocacy groups for neuroacanthocytosis in Europe & US may support affected persons & their caregivers.

EKG = electrocardiogram; PT = physical therapy

1.

When epilepsy is suspected, EEG should be performed and anti-seizure medication treatment considered (based on standard guidelines including the monitoring of medication-specific laboratory parameters and serum concentrations). Because of the increased risk of rhabdomyolysis, treatment with neuroleptics – in particular clozapine – should be carefully monitored, both clinically and with serum CK measurements.

From: McLeod Neuroacanthocytosis Syndrome

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