Charcot-Marie-Tooth disease: Causes, Symptoms, Diagnosis & Treatment

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

Charcot-Marie-Tooth disease (CMT) could be a group of inherited conditions that harm the peripheral nerves.
It’s also referred as hereditary motor and sensory neuropathy (HMSN).

The peripheral nerves are found outside the main central nervous system (brain and spinal cord). They management the muscles and relay sensory information, like the sense of touch, from the limbs to the brain.

• People with Charcot-Marie-Tooth disease (CMT) could have:
• muscle weakness within the feet, ankles, legs and hands
• an awkward manner of walking (gait)
• highly arched or terribly flat feet
• numbness within the feet, arms and hands

The symptoms of Charcot-Marie-Tooth disease (CMT) sometimes begin to appear between the ages of 5 and fifteen, although they often don’t develop till well into middle age or later.

Charcot-Marie-Tooth disease (CMT) could be a progressive condition. Means the symptoms slowly get worse, creating everyday tasks progressively difficult.

Symptoms of Charcot-Marie-Tooth disease (CMT)

As Charcot-Marie-Tooth disease (CMT) progresses, symptoms could spread from the feet and legs to the hands and arms. The severity of symptoms will vary greatly from person to person, even among members of the family.

Signs and symptoms of Charcot-Marie-Tooth disease (CMT) could include:

• Weakness in your legs, ankles and feet
• Loss of muscle bulk in legs and feet
• High foot arches
• Curled toes (hammertoes)
• Decreased ability to run
• Difficulty lifting your foot at the ankle (footdrop)
• Awkward or higher than traditional step (gait)
• Frequent tripping or falling
• Decreased sensation or a loss of feeling in your legs and feet

Causes of Charcot-Marie-Tooth disease (CMT)

Charcot-Marie-Tooth disease (CMT) is caused by defects within the genes for proteins that have an effect on axons fibers that carry electrical signals between the brain and spinal cord and also the rest of the body or within the genes for proteins that affect myelin, a coating on axons that insulates and nourishes them. More than eighty genes have been implicated in Charcot-Marie-Tooth disease (CMT), each one linked to a specific type (and in several cases, quite one type) of the disease.

Charcot-Marie-Tooth disease (CMT) may be inherited in many ways: autosomal dominant (through a faulty gene contributed by either parent); autosomal recessive (through a faulty gene contributed by each parent); or X-linked (through a gene on the x chromosome contributed by either parent.) For a lot of on causes and inheritance patterns in Charcot-Marie-Tooth disease (CMT).

Charcot-Marie-Tooth disease (CMT) Diagnosis

A diagnosis of Charcot-Marie-Tooth disease (CMT) is established through a thorough neurological evaluation by an expert in neuropathy, including a complete family history, physical exam, and nerve conduction tests, and appropriate genetic testing.

A physical exam could show:

• Difficulty lifting up the foot while walking;
• Difficulty with dorsiflexion of the toes and ankles (upward movement, away from the ground) and other foot movements;
• Reduced or absent deep tendon reflexes (like the knee-jerk reflex);
• Loss of muscle management and atrophy (shrinking of the muscles) within the feet and lower legs (and later the hands).

Genetic testing will provide the exact cause for many people who have charcot-marie-tooth disease (CMT).

How Charcot-Marie-Tooth disease (CMT) is Treated

There’s currently no cure for Charcot-Marie-Tooth disease (CMT). but treatments will facilitate relieve symptoms, aid mobility and increase the independence and quality of life for individuals with the condition.

These treatments could include:

• physiotherapy and certain types of exercise
• occupational therapy
• walking aids

In some cases, surgery is also required to correct issues such as flat feet and muscle contractures (where muscles shorten and lose their normal range of movement).