Neuroacanthocytosis

Disease Overview

Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.[4798] The onset, severity and specific physical findings vary depending upon the specific type of NA present.[4798] Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes.[4798][4799] NA syndromes typically progress to cause serious, disabling complications and are usually fatal.[4798] NA is inherited, but the disease-causing gene and inheritance pattern varies for each type.[4798][4799] Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the “core” NA syndromes – chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).[4798]

Synonyms

• Neuroacanthocytosis syndrome