In 1886 three researchers described a genetic disease causing peripheral system damage, a disease that was later named after them: Charcot-Marie-Tooth disease, or in short – CMT.
The disease causes functional damage in the peripheral system, the system in charge of stimulus transmission to the muscular system.
The damage reduces the electrical stimulus intensity resulting in muscle degeneration and gradual loss of the limbs functioning and feel – hands and arms, feet and legs.
The clinical expression is mainly portrayed by a curved leg with a high-arc shape, and a distorted shape of the thumb and the fingers. The magnitude of symptoms severity range from one person to another, depending on the disease type and age of outburst.
There are about 100 subtypes of the disease, some that include axon damage – damage to the neural fiber through which the electrical stimulus is transmitted, and others with myelin damage– damage to the axon isolating substance that enables fast electrical transmission.
The most common type is CMT1A – causing myelin damage.
The Apple Does Not Fall Far from The Tree
In most cases, the disease is hereditary and transfers by genetics from one sick parent, though in some rare cases it appears spontaneously during pregnancy. Every person in the population is in danger of becoming ill with CMT.
Onset is usually during childhood but may also appear in later stages of life. Today, about 3 million people worldwide are diagnosed with CMT, with a ratio of 1 to 2,500 people.
Unfortunately, the disease is immedicable, yet active research is executed worldwide with the goal of discovering the cure for the disease.
Some patients only suffer from partial symptoms. As in any chronic disease, the physical symptoms may also be accompanied by mental and emotional difficulties. The CMT Organization opens the door to CMT patients and invites community members to share, connect and receive advice and support.
The Diagnostic Process
- Orthopedic Physical Examination
- Neurological exam, nerve conduction test and NCT-EMG, electromyography
- Genetic consultation