Charcot-Marie-Tooth Disease: Genetic Diseases

Charcot-Marie-Tooth disease (CMT) is also known as hereditary motor and sensory neuropathies which affect mostly to the people of United States.

It is a common hereditary disease and comprising of a group of disorders that affects the peripheral nervous system. It is defined by progressive loss of muscle tissue and touch sensation across various part of the body. The disorders that affect the peripheral nerves are called Peripheral Neuropathies.

The peripheral nerves lie outside the brain and spinal cord and supply the supply the muscles and sensory organs in the limbs.

What are the symptoms of the Charcot-Marie-Tooth disease?

The neuropathy of CMT usually begins in childhood and affects motor and sensory nerves (the motor nerves are involved to contract muscles and control all the voluntary muscle activities).  The severity of this diseases varies from person to person. This disease causes weakness in the foot and lower leg muscles which result in foot drop and a high-stepped gait with frequent tripping. In some cases, lower leg may take on the appearance of an ‘inverted champagne bottle’ due to the loss of the bulk of muscle. Later the weakness and muscle atrophy may occur in the hands which ultimately leads to the difficulty in carrying out fine motor skills (affects the coordination of movements of fingers, hand, wrist, feet, and tongue). It is not considered a fatal disease and people with most forms of CMT have a normal life expectancy. Overuse of the affected part can activate symptoms like numbness, spasm, and painful cramping.

Some people do not experience the symptoms until their early 30s and 40s.

Symptoms and progressions vary from person to person including involuntary grinding of teeth, breathing, hearing, vision, neck, shoulder muscles, loss of heights, malfunction of hip sockets, gastrointestinal problems etc.

Causes

It is caused by the mutations which lead to the defects in the proteins, involved in structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different types of CMT, and slowly degenerates the nerves and lose the ability of the nerves to communicate with their distant targets. Nerve signals are conducted by the axon with a myelin sheath and this CMT mostly affect the myelin sheath as compared to the

axon.