| Main clinical features
|
neurologic disorder of the peripheral nerves characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs; onset of distal muscle weakness and atrophy in early childhood that results in walking difficulties and gait abnormalities
associated with pyramidal signs, including hyperreflexia, suggesting the involvement of upper motor neurons
electrophysiologic studies are consistent with a neurogenic process; also variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities |