Charcot-Marie-Tooth
Disease (CMT):
Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN) and peroneal muscular atrophy (PMA) — is a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is one of the most common inherited neurological disorders affecting approximately 1 in 2,500 people.
Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN) and peroneal muscular atrophy (PMA) — is a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is one of the most common inherited neurological disorders affecting approximately 1 in 2,500 people.
~ CMT was discovered in
1886 by three physicians for whom it was named; Jean-Martin Charcot,
Pierre Marie, and Howard Henry Tooth.~CMT is usually inherited
in an autosomal dominant pattern, which means if one parent has CMT,
there is a 50/50 chance of each child inheriting the disorder.~ It is slowly
progressive, causing deterioration of peripheral nerves which control
sensory information and muscle function of the foot/lower leg and
hand/forearm.~ Depending upon the
severity and type of CMT, it may cause foot-drop walking gait, foot
bone abnormalities, high arches and hammer toes, loss of muscle
tissue, problems with balance, problems with hand function,
occasional lower leg and forearm muscle cramping, loss of some normal
reflexes, scoliosis (curvature of the spine) chronic pain and sometimes, breathing
difficulties. ~ Patients may lose
feeling in their hands and feet, putting them at risk for blisters,
burns, and sores.~ CMT has no known cure,
although physical therapy, occupational therapy and moderate physical
activity are beneficial.~ It does not affect life
expectancy, but can, in rare instances, cause severe disability.~ CMT can be detected at
any age. Typically, the first signs may include leg weakness,
frequent tripping and falling.~ It can vary greatly in
severity, even within the same family.
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