Main clinical features
|
characterized by lack of tearing, emotional hability, paroxysmal hypertension, increased sweating, cold hands and feet, corneal anesthesia and blotching of the skin
poor development and progressive degeneration of the sensory and autonomic nervous system with progressive blindness
many of the debilitating aspects of the disease are related to a progressive loss of proprioception, leading to severe gait ataxia, spinal deformities, and respiratory insufficiency due to neuromuscular incoordination (PMID: 30905397)) |