Introduction and background
Charcot-Marie-Tooth (CMT) disease was first discovered by French neurologist [1] Jean Martin Charcot and his student Pierre Marie. At the same time, British neurologist [2] Howard Henry Tooth described the same condition in his Cambridge university dissertation. Both referred to the disease as peroneal muscular atrophy, and it was later renamed Charcot-Marie-Tooth after the three surgeons who discovered it in 1886 [3]. Charcot-Marie-Tooth disease is known as the most common neuromuscular disease, affecting 1 in 2500 of the population [6]. Although very little was understood about CMT in the “pre-genetic” era between 1886-1991 [4], we now know that CMT is a group of hereditary disorders which affect the peripheral nervous system, characterised by loss of sensation, usually in hands and feet with muscular atrophy in the hands, legs and feet [4]. Charcot-Marie-Tooth disease is due to faulty genes, and as a result those with immediate family whom suffer from the disease, are most likely and are at the highest risk of suffering from the disease themselves. As well as that, sufferers of other neuropathic diseases such as diabetes, are more likely to suffer from worsened …show more content…
In motor and sensory neurones, each Schwann cell is covered by a lipid myelin sheath as shown in Figure.1. [10]. In these nerves, impulses travel via salutatory conduction. This means that the impulse ‘jumps’ between gaps in the myelin sheath known as the nodes of Ranvier [9]. This allows the impulse to travel much faster than if it had to travel along the whole length of the axon. In Charcot-Marie-Tooth disease, the axon and the myelin sheath are affected. This causes the nerve impulse to travel more slowly and with reduced strength along the nerve. This causes the symptoms described, as over time the muscles are not activated and therefore, leads to muscle weakness and
Charcot-Marie-Tooth (CMT) disease was first discovered by French neurologist [1] Jean Martin Charcot and his student Pierre Marie. At the same time, British neurologist [2] Howard Henry Tooth described the same condition in his Cambridge university dissertation. Both referred to the disease as peroneal muscular atrophy, and it was later renamed Charcot-Marie-Tooth after the three surgeons who discovered it in 1886 [3]. Charcot-Marie-Tooth disease is known as the most common neuromuscular disease, affecting 1 in 2500 of the population [6]. Although very little was understood about CMT in the “pre-genetic” era between 1886-1991 [4], we now know that CMT is a group of hereditary disorders which affect the peripheral nervous system, characterised by loss of sensation, usually in hands and feet with muscular atrophy in the hands, legs and feet [4]. Charcot-Marie-Tooth disease is due to faulty genes, and as a result those with immediate family whom suffer from the disease, are most likely and are at the highest risk of suffering from the disease themselves. As well as that, sufferers of other neuropathic diseases such as diabetes, are more likely to suffer from worsened …show more content…
In motor and sensory neurones, each Schwann cell is covered by a lipid myelin sheath as shown in Figure.1. [10]. In these nerves, impulses travel via salutatory conduction. This means that the impulse ‘jumps’ between gaps in the myelin sheath known as the nodes of Ranvier [9]. This allows the impulse to travel much faster than if it had to travel along the whole length of the axon. In Charcot-Marie-Tooth disease, the axon and the myelin sheath are affected. This causes the nerve impulse to travel more slowly and with reduced strength along the nerve. This causes the symptoms described, as over time the muscles are not activated and therefore, leads to muscle weakness and