It can be laid 10 to 15 years after the appearance of the first symptoms …
We know Charcot’s disease, less “Charcot-Marie-Tooth disease” (CMT), also called “hereditary sensitivomotor neuropathy (NSMH)”. “”Charcot-Marie-Tooth disease should not be confused with Charcot’s disease, also known as amyotrophic lateral sclerosis (SLA), which leads to death within three years of diagnosis“We immediately said Professor Shahram Attarian, head of neuromuscular disease and SLA service at the Timone. These are two very different diseases. Charcot-Marie-Tooth does not impact longevity.
What is type 2 Charcot disease?
It affects approximately 1 in 2,500. This disease refers to a subtype of Charcot-Marie-Tooth’s disease. It is a neuropathy that affects the motor nerves (those which control muscle movements) and the sensitive nerves (those which send sensory information to the brain). There are around 120 forms of Charcot-Marie-Tooth disease.
The most common rare disease
“Imagine the nerves of our body as the electrical system which connects different parts of our house. In this analogy, our brain would act like the power plant, the spinal cord like the high-voltage lines, and the nerves themselves like the electric wires which feed each piece with electricity. These ‘threads’ are made up of a protective sheath and an internal driver, similar to copper in an electric cable, transmits the signals. Charcot-Marie-Tooth is characterized by a deterioration of these ‘electric wires’, affecting the way in which the signals are sent through the body. “There are mainly two forms of this disease, based on the part of the ‘cable’ which is damaged:
► Charcot-Marie-Tooth Type 1: concerns the deterioration of the myelin sheath, the protective envelope of the nerve. This is equivalent to damage to the insulation around an electric cable, disturbing the electricity flow.
► Charcot-Marie-Tooth Type 2: directly affects the axone, or the internal “driver ‘of the nerve
What are the causes of this disease?
Charcot-Marie-Tooth’s disease is of genetic origin. It can be transmitted in three modes:
- A dominant autosomal mode, which means that when one of the two parents carries the gene, it has one in two risk to transmit it to his child.
- A recessive mode: for the disease to be transmitted, both parents must have genetic disease.
- A mode linked to X: in this case transmitted by the mother, the gene is located on the X chromosome, which determines sex.
What are the symptoms?
They can manifest themselves early in childhood or develop during adolescence. They understand
- muscle weaknesses with atrophy,
- a lack of sensitivity in the feet
- a deformation of the feet (hollow feet),
- very fine calves,
- the absence of a tendon reflex in the ankles
- A lack of balance linked to the loss of sensitivity.
Later in the evolution, sensitivo-motor abnormalities can reach hands in “glove form”. In practice in daily life, Charcot-Marie-Tooth’s disease leads to a difficulty in walking that results in falling feet. Patients should raise their leg so as not to hit the soil. The fine gestures with your hands (open a bottle, manipulate the keys, button yourself …) are also complicated. “In addition, patients suffer from multiple pain and fatigue”, Develops the specialist.
Diagnostic wandering is often very long. It can be 10 to 15 years before the diagnosis is made. It is based on the clinical examination, the interrogation to know the family history and electromyography. Generic analyzes confirm the diagnosis.
No treatment to cure this disease
To date, no treatment can cure Charcot-Marie-Tooth’s disease. However, approaches are available to relieve symptoms and prevent the worsening of the condition. Rehabilitation by physiotherapy and the use of painkillers constitute the pillars of this management. In addition, the use of orthopedic soles, suitable shoes or splints can be beneficial to improve the daily lives of patients. Professor Shahram Attarian stresses that therapeutic trials are mainly directed to the most common form of this disease, CMT1A. Although drug trials are limited for the majority of CMT2, promising gene therapies are being studied on animal models. However, their application in humans is not yet at hand. It is important to note that the progression of this disease is generally very slow, but it can vary considerably depending on the many factors still incompletely understood.
