giant axonal neuropathy
Definition: a rare disorder beginning at or after the third year of life, and presenting clinically with kinky hair, progressive painless clumsiness, muscle weakness and atrophy, sensory loss, and areflexia. Pathologically, both myelinated and unmyelinated nerve fibers contain axonal spheroids packed with neurofilaments; sporadic in nature.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.