NA, A Family of Ultra-rare Diseases
Neuroacanthocytosis (NA) is a group of ultra-rare disorders marked by progressive muscle weakness and atrophy, progressive cognitive loss, chorea (involuntary twisting movements of the body) and acanthocytes (spikey red blood cells). Other symptoms include facial tics, uncontrolled muscle movement, instability when walking, seizures, biting of the tongue, cheeks and lips, and changes in personality, comprehension and judgement. Symptoms vary between patients and between each of the two NA disorders: chorea-acanthocytosis (ChAc, also known as VPS13A) and McLeod neuroacanthocytosis syndrome (MLS).
Please see the following links for more detailed information on each disease:
ChAc (VPS13A): https://www.ncbi.nlm.nih.gov/books/NBK1387/
More information can also be found at www.naadvocacy.org, the website of our international sister organization, including ways for patients, families, caregivers, clinicians, and researchers to connect, as well as information on past and upcoming NA symposia.