CMT:

CMT1A is a rare (1:5,000) hereditary motor and sensory demyelinating peripheral neuropathy (also known as Hereditary Motor and Sensory Neuropathy, HMSN) which is caused by an intrachromosomal duplication and consecutive toxic overexpression of the PMP22 gene on chromosome 17. CMT1A is one of the most common inherited peripheral nerve-related disorders which is passed down through families in an autosomal dominant fashion. CMT1A disease becomes evident in young adulthood and slowly progresses with distally pronounced muscle weakness and numbness. Pain can range from mild to severe. The disease can be highly debilitating with patients becoming wheel chair-bound and is often accompanied by severe cases of neurological pain. There is no known cure for this incapacitating disease.

Tuesday, August 12, 2014

I was born with CMT!


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.
~ 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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