Charcot-Marie-Tooth Disease Study

Charcot-Marie-Tooth disease (CMT) also known as Hereditary Motor Sensory Neuropathy (HMSN) is a genetic heterogeneous disorder with a common clinical phenotype. It’s the most common inherited neuromuscular disease, with there being 200,000 cases in the EU (Pareyson and Marchesi, 2009). CMT is a group of diseases that affect the periphery nerves in the body, motor and sensory nerves are affected however in some rare cases only the motor nerves are affected; distal hereditary motor neuropathy (dHMN). The affected nerves cause characteristics such as muscle weakness and lack of sensation in the respective limbs. It can be characterised by there being no known metabolic derangement with the inherited neuropathy. It’s caused by mutations in particular