Charcot-Marie-Tooth disease is a group of diseases that damage the nerves that are outside the brain and spinal cord- the peripheral nerves- which control the muscles and sensory stimuli. CMT is caused by an abnormality in one of the genes (sometimes inherited from parents) that control the development of the peripheral nerves leading to the nerves becoming damaged. The reason why CMT is the umbrella term for ‘a group’ of diseases is because no single gene or fault causes CMT, there are a range of genetic faults that can damage the peripheral nerves. One of the genes that cause CMT causes the myelin sheath to wear down and so the axon, the part of the nerve cell that transmits electrical impulses, become damaged without the protection the myelin sheath provides; therefore, impulses to the brain and muscles are affected leading to numbness and weakness.
It is a progressive condition; it gets worse as the individual gets older. CMT may cause muscle weakness and numbness in the feet, ankles, legs and hands, have very arched feet and curled toes, cold hands and feet due to poor circulation and having an uneven gait. These symptoms may appear in childhood, usually between five and fifteen years old, but they may not develop until middle age . A common sign is when a child has difficulty walking due to having trouble lifting their feet of the ground.
There is no cure but there are treatments that can increase mobility and the independence of the individual such as physiotherapy, occupational therapy and walking aids and surgery can be used to flatten the arch of the foot and correct muscles contractions where the muscles shorten which limits the range of movement.
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