| Main clinical features
|
Gypsy kindred, early onset, presenting with muscle weakness andwasting tendon areflexia, skeletal and foot deformities, sensory loss, severe decreased nerve conduction velocities and increased threshold for electrical stimulation (telomeric to EGR2)
delayed early motor development, distal lower limb weakness apparent at age 5–15 years, upper limb involvement at age 10–40 years, and steady progression to total muscle paralysis below the knees and often below the elbows by the fourth to fifth decade of life |