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Unlocking neurogenetics: How do mutations in Charcot-Marie-Tooth disease cause the disorder?
Charcot–Marie–Tooth disease (CMT) is an inherited motor and sensory neuropathy that primarily affects the peripheral nervous system and is characterized by the progressive loss of muscle tissue and sense of touch over time. The condition is the most common inherited neurological disorder, affecting about one in 2,500 people. The disease is named after the French doctor Jean-Martin Charcot, his student Pierre Marie, and the Englishman Howard Henry Tooth. There is no known cure, and the mainstay of care is focused on rehabilitation and maintaining function.
Signs and symptoms of illness
Symptoms of CMT usually appear in childhood or early adolescence, but some people may not develop symptoms until their 30s or 40s. The first symptoms are usually "falling feet" or high arches feet, accompanied by eagle toes, which cause the toes to bend frequently. Atrophy of lower limb muscle tissue may cause the legs to look like "crane legs" or "inverted wine bottles." As the disease progresses, weakness in the hands and forearms may develop.
“The initial symptoms of CMT include loss of sensation and associated muscle atrophy and difficulty moving.”
Causes
The occurrence of CMT is mainly due to the gene mutation of neural proteins, which interferes with the transmission of nerve signals. The most common cause is a large duplication of the PMP22 gene located on the short arm of chromosome 17, which is found in 70-80% of cases. In addition, mutations in the MFN2 gene, located on chromosome 1, are also associated with the pathogenesis of CMT.
Diagnosis and classification
The diagnosis of CMT can be confirmed by nerve conduction velocity tests, nerve biopsy, and DNA testing. Since this disease is a genetic disease, it is also important to understand the medical history. In terms of classification, CMT is heterogeneous and is divided into multiple types and subtypes based on different mutations.
Management and Therapy
For people with CMT, maintaining movement, muscle strength, and flexibility is often the most important treatment goal. Therefore, professional multidisciplinary teamwork is highly recommended, including occupational therapy, physical therapy, and possibly even surgical intervention. Proper footwear is crucial for CMT patients; however, due to high arches and claw toes, it is often difficult for patients to find the right shoes.
Prognosis
CMT symptoms vary widely in severity, and people with the same type may experience different symptoms. Many patients are able to lead normal lives with few or no symptoms. Based on current research, life expectancy does not change significantly in most cases of CMT.
As we delve deeper into Charcot-Marie-Tooth disease and the genetic mutations behind it, we can’t help but wonder: In the future, how will technology change the quality of life for these patients as advances in genetics and treatments emerge?
