Hereditary Sensorimotor Neuropathy (Charcot-Marie-Tooth)

Key points

• HSMN Hereditary sensorimotor neuropathy (HSMN) is a relatively new term which encompasses Charcot-Marie-Tooth disease (also known as peroneal muscular atrophy).
• HSMN type I: primarily due to demyelinating pathology
• HSMN type II: primarily due to axonal pathology HSMN type I
• autosomal dominant
• due to defect in PMP-22 gene (which codes for myelin)