Charcot-Marie tooth disease

a hereditary desease

What is Charcot-Marie-Tooth disease?

Charcot- Marie- Tooth disease comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. (this is also known as HMSN or hereditary motor and sensory neuropathy) A nerve cell communicates information to distant targets by sending electrical signals down a long, thin part of the cell called the axon. In order to increase the speed at which these electrical signals travel, the axon is insulated by myelin, which is produced by another type of cell called the Schwann cell. Myelin twists around the axon like a jelly-roll cake and prevents the loss of electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain.

The Cause

CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath.

Those who identified Charcot- Marie- Tooth disease

Symptoms

The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.) 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 (a condition in which the middle joint of a toe bends upwards) 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. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue)

How to Cure it

There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and even orthopedic surgery can help individuals cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for individuals who have severe pain.
Charcot-Marie-Tooth Disease with Pes Cavus
Charcot-Marie-Tooth disease (CMT)
Charcot-Marie-Tooth Disorder