How to Treat Charcot Marie Tooth Disease?

  • January 10, 2024
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How to Treat Charcot Marie Tooth Disease?

What is Charcot-Marie-Tooth Disease (CMT)?

Charcot-Marie-Tooth Disease (CMT) is an inherited neurological disorder characterized by the degeneration of peripheral nerves, resulting in progressive muscle weakness and atrophy, especially in the lower limbs. This condition, named after the pioneering physicians Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth in 1886, encompasses a range of genetic disorders affecting both motor and sensory functions.

CMT, with its six primary types, is a condition that affects the nerves responsible for regulating muscle movements. These types stem from genetic mutations inherited from one or both parents. As the most prevalent form of inherited peripheral neuropathy, CMT defines a category of disorders involving the peripheral nervous system, which includes nerves outside the spinal cord and brain. The term "peripheral" derives from the Greek language, indicating the area "around" or "outside the center."

Why does Charcot-Marie-Tooth Disease Occur?

CMT is primarily caused by genetic mutations affecting the peripheral nerves, which play a crucial role in transmitting signals between the brain and muscles. The genetic mutations can lead to a variety of issues, including the abnormal production of proteins necessary for maintaining the health of nerve fibers. As a result, the nerves gradually degenerate, leading to muscle weakness, loss of sensation, and difficulties with balance and coordination.

How Does Charcot-Marie-Tooth Disease Manifest?

  1. The manifestation of CMT varies among individuals and can be influenced by the specific genetic mutation involved. Common symptoms include muscle weakness, particularly in the legs and feet, high arches or flat feet, hammertoes, and difficulty walking. Additionally, individuals with CMT may experience a reduced ability to feel pain, heat, and cold due to sensory nerve involvement.
  2. The progression of CMT is typically gradual, and symptoms may appear in early childhood or later in life. The severity of the disease can also differ significantly, even among family members with the same genetic mutation.