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Complete Information on Charcot Marie Tooth disease

By: Juliet Cohen

Charcot-Marie Tooth Disease is the most common neuromuscular disease in the world. It is sometimes referred to as "Hereditary Motor and Sensory Neuropathy. It is affected approximately 1 in 2,500 people in the United States. CMT affects both motor and sensory nerves. Charcot-Marie-Tooth disease most often is discovered between midchildhood and age 30. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes are also characteristic due to weakness of the small muscles in the feet.

In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. CMT is a heterogeneous group of genetically distinct disorders. CMT type 1 is a disorder of peripheral myelination, resulting from a mutation in the peripheral myelin protein-22 (PMP22) gene. CMT type 2 primarily is a neuronal (ie, axonal) disorder, not a demyelinating disorder. CMT type 2 results in peripheral neuropathy through direct axonal death and Wallerian degeneration. CMT type 3 is characterized by infantile onset. It results in severe demyelination with delayed motor skills and is much more severe than type 1.

CMTX is an X-linked dominant disease and is caused by a point mutation in the connexin-32 gene on the X chromosome. The connexin-32 protein is uttered in Schwann cells-cells that wrap around nerve axons, making up a single segment of the myelin sheath. This protein may be involved in Schwann cell communication with the axon. Symptoms usually begin in late childhood or early adulthood. Weakness in the hands and forearms occurs in many people later in life as the disease progresses. Symptoms and progression of the disease can vary. Breathing can be affected in some; so can hearing, vision, and the neck and shoulder muscles.

There is no treatent for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and even orthopedic surgery can help patients cope with the disabling symptoms of the disease. People with CMT can also benefit from a range of special aids, equipment and home modifications depending on how they are affected by the disease. Exercises to help build stamina or increase endurance will help prevent the fatigue that results from performing everyday activities that require strength and mobility. Moderate aerobic activity can help to maintain cardiovascular fitness and overall health.

Article Source: http://www.content.onlypunjab.com

Juliet Cohen writes articles for health problems. She also writes articles for modern hairstyles and know how to get boys hairstyles.

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