It can take 10 to 15 years before the diagnosis of Charcot type 2 disease is made. Here are the symptoms that can alert you.
We know Charcot disease, less “Charcot-Marie-Tooth disease” (CMT), also called “Charcot-Marie-Tooth disease” (CMT).hereditary sensorimotor neuropathy (NSMH).”Charcot-Marie-Tooth disease should not be confused with Charcot disease, also known as Amyotrophic Lateral Sclerosis (ALS), which leads to death within three years following diagnosis” immediately specifies Professor Shahram ATTARIAN, Head of the Neuromuscular Diseases and ALS Department at Timone. These are two very different diseases. Charcot-Marie-Tooth does not impact longevity.
What is Charcot disease type 2?
When we talk about Charcot disease type 2, it refers to a subtype of Charcot-Marie-Tooth disease. This disease is a neuropathy that affects the motor nerves (those which control muscular movements) and sensory nerves (those which send sensory information to the brain). There are approximately 120 forms of disease by Charcot-Marie-Tooth. Although rare, it is the most common rare disease, affecting approximately 1 in 2,500 people.
The most common rare disease
“Think of the nerves in our body as the electrical system that connects different parts of our house. In this analogy, our brain would act as the power plant, the spinal cord like the high voltage lines, and the nerves themselves like the electrical wires that supply electricity to each room. These ‘threads’ are made up of a protective sheath and an internal conductor, similar to copper in an electrical cable, which transmits the signals. Charcot-Marie-Tooth disease is characterized by a deterioration of these ‘electric wires’affecting how signals are sent through the body.” There are mainly two forms of this disease, based on the part of the ‘cable’ that is damaged:
► Charcot-Marie-Tooth type 1: concerns the deterioration of the myelin sheath, the protective covering of the nerve. This is equivalent to damaging the insulation around an electrical cable, disrupting the flow of electricity.
► Charcot-Marie-Tooth type 2: affected directly the axonor the internal ‘conductor’ of the nerve
What are the causes of this disease?
Charcot-Marie-Tooth disease is of genetic origin. The disease can be transmitted in three ways:
- An autosomal dominant modewhich means that when one of the two parents carries the gene, they have a one in two risk of transmitting it to their child.
- A recessive mode: for the disease to be transmitted, both parents must have the 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 ?
Symptoms may appear early in childhood or developing during adolescence. They understand
- muscle weakness with atrophy,
- a lack of sensitivity in the feet
- a deformity of the feet (cavus feet),
- very thin calves,
- absence of tendon reflex at the ankles
- a lack of balance linked to loss of sensitivity.
Later in evolutionsensory-motor abnormalities can reach “glove-shaped” hands. In practice in daily life, Charcot-Marie-Tooth disease causes difficulty walking which results in foot drop. Patients should raise their leg so as not to hit the ground. Fine gestures with the hands (opening a bottle, handling keys, buttoning up, etc.) are also complicated. “In addition, patients suffer from multiple pains and fatigue”, develops the specialist.
The diagnostic wandering is often very long. It can happen 10 to 15 years before diagnosis is made. It is based on clinical examination, questioning to find out family history andelectromyography. Generic analyzes confirm the diagnosis.
No treatment to cure this disease
Nowadays, no treatment does not cure Charcot-Marie-Tooth disease. However, approaches are available to relieve symptoms and prevent the condition from getting worse. Rehabilitation through physiotherapy and the use of pain medication constitute the pillars of this support. Moreover, the use of orthopedic insoles, adapted shoes or splints can prove beneficial in improving patients’ daily lives. Professor Shahram Attarian emphasizes that therapeutic trials are mainly directed towards the most common form of this disease, CMT1A. Although drug trials are limited for the majority of CMT2, promising gene therapies are being studied in animal models. However, their application in humans is not yet within reach. It is important to note that the progression of this disease is generally very slowbut it can vary considerably depending on many factors that are still incompletely understood.