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The Mystery of Charcot-Marie-Tooth Disease: How Does It Affect Neurology?
Charcot-Marie-Tooth disease (CMT) is an inherited motor and sensory neuropathy primarily characterized by the progressive loss of muscle tissue and tactile perception. The disease is one of the most common inherited neurological disorders, affecting about one in 2,500 people. CMT is named after the three medical scientists who first described the disease: French physician Jean-Martin Charcot, his student Pierre Marie, and British physician Howard Henry Tews. Although there is currently no cure, appropriate care is crucial for patients seeking to maintain function.
Symptoms and signs
Symptoms of CMT usually appear in early childhood or early adulthood, but may develop at a later age. Some patients may not even begin to experience symptoms until they are in their thirties or forties.
The most common initial symptom is foot drop or pes cavus, which may be accompanied by tapering, a persistent bending of the toes.
As the disease progresses, the muscle tissue under the legs atrophies, resulting in a "crane's legs" or "champagne bottle" appearance, and weakness in the hands and forearms. People with this condition often experience a loss of touch, primarily in the feet, ankles, and arms. In addition, CMT patients may also experience symptoms such as covert epilepsy, vision and hearing impairment, and scoliosis.
CMT can be aggravated by emotional stress or pregnancy. In most cases, the pace of these symptoms and lesions varies, and some people experience no pain at all, but when pain occurs, it can significantly affect the quality of daily life.
Causes and classification
Charcot-Marie-Tooth disease is caused by genetic mutations that lead to defects in neural proteins. Most CMT mutations affect myelin, and some affect axons.
The most common cause (70-80%) is a large duplication of the PMP22 gene on chromosome 17.
CMT can be divided into multiple types based on the affected genes, including CMT1, CMT2 and X-liaison CMT. Among them, CMT2 is called axonal neuropathy due to the degeneration of nerve axons; while for X-contact CMT, it is due to connexin dysfunction caused by GJB1 gene mutations.
Diagnostic methods
Diagnosing CMT requires methods such as nerve conductance studies, nerve biopsies, and DNA testing. Although DNA testing can provide a clear diagnosis, not all genetic markers are known.
Diagnosis usually begins with weakness in the patient's lower limbs or deformation of the foot. These symptoms, such as foot drop, high cavus, etc., may be the earliest warning signs.
The neurologist will make a diagnosis based on the patient's family history, because CMT is a hereditary disease, but if there is no history in the family, it does not mean that the diagnosis is ruled out.
Treatment and Management
For patients with CMT, maintaining movement and muscle strength are the most important goals. Therefore, interprofessional teamwork such as physical therapy, occupational therapy and the use of orthotics will be of great help.
Suitable footwear is very important for CMT patients, but due to patients’ high arched feet, deformities, etc., finding suitable shoes is often a challenge.
CMT patients may also need surgery, such as correcting foot deformities. Such surgery can help stabilize the foot and correct problems that change over time.
Prognosis & Reflection
The progression and severity of symptoms of CMT vary from patient to patient. Some patients live almost asymptomatic lives with little or no impact on their health. In other words, although most people's life span will not be affected, the impact of CMT on patients' quality of life cannot be ignored.
So, in the face of this difficult-to-treat genetic disease, what other insights can we draw from it to improve the quality of life of patients?
