Autosomal recessive disorder (HMSN/ACC):
• Severe progressive sensorimotor neuropathy with areflexia from infancy
• Developmental delay / intellectual disability
• Hypotonia
• Amyotrophy
• Dysmorphic features
• Seizures
• Scoliosis
• Ptosis
• Gaze palsy
• Contractures
• Tremor
• Psychotic episodes
• Nerve conductions: absent sensory potentials, variable motor nerve conduction velocities
• Swollen axons
• Restrictive pulmonary disease
• Complete, partial or no agenesis of corpus callosum
• Reduced life expectancy often due to respiratory insufficiency
Autosomal dominant disorder (CMT):
• Sensorimotor neuropathy
• Delayed motor development
• Muscle atrophy
• Achilles tendon retractions
• Foot deformities
• Spasticity (rare)
• Hydrocephalus (one family with incomplete penetrance)
SLC12A6