Radim Mazanec
Hereditary neuropathy is the most common inherited neuromuscular disease. The prevalence is approximately 1:2500. The most common subtype is called Charcot-Marie-Tooth disease and affects motor and sensory nerve fibres. In most cases clinical symptoms involve atrophies of distal feet muscles, feet deformities and absent ankle reflexes. The classification is based on nerve conduction velocity - type 1 - demyelinating - motor conduction velocity less than 38 m/s and type 2 – axonal – above 38 m/s. The molecular geneticists discovered more than 40 genes with different causative mutations and have made a major contribution to molecular genetics classification of the CMT disease. The current therapeutic approach is based on physiotherapy, prosthetic and orthopaedic treatment because causative treatment does not exist. Prognosis of CMT patients is relatively good because the standard life expectancy is not impaired but has a big impact on the quality of life.