Charcot Marie Tooth, abbreviated as CMT disease refers to an inherited type of nerve problem, which causes various abnormalities in different nerves responsible to supply your legs, feet, arms, and hands. The problem affects not only your sensory nerves but also your motor ones.
Motor nerves are responsible to carry signals from the brain of a person to his/her muscles by intimating about their movements. Sensory nerves are responsible to carry different types of sensations, like cold, heat and pain back towards the brain. Charcot Marie Tooth categorizes as peripheral neuropathy, as it affects nerves present in the outer area of one’s brain as well as the spinal cord.
Charcot Marie Tooth disease often caused by an inherited genetic problem from a single or both parents. The genetic information passed by a single or both parents on their offspring determines the type of genetic mutations or defects. Genetic mutation is responsible to determine the symptoms experienced by the child born with CMT problem. In addition, genetic defect or mutation determines the age, from when you may start experiencing problems related to Charcot Marie Tooth. Until now, doctors have identified approximately 30 known genetic mutations to cause Charcot Marie Tooth.(1)
Who Is At Risk For Charcot Marie Tooth?
Following individuals remain at a relatively higher risk to cause Charcot Marie Tooth i.e. CMT disease in childhood or adulthood-
If Any Immediate Family Member Has CMT: Every one of us is well aware that Charcot Marie Tooth i.e. CMT disease is a hereditary one. Because of this, if any of your immediate family members have or had the same disease, you remain at a relatively higher risk to develop CMT disorder.
If You Are A Diabetic Patient: We know that diabetic patients often experience various types of problems based on the spike in their blood glucose levels. Hence, diabetes leads to various symptoms to cause CMT disease. Even depending on the actual blood sugar levels, diabetes may make the condition of Charcot Marie Tooth patients worse in the near future.
Chemotherapy Drugs: If you have recently undergone chemotherapy with vincristine and paclitaxel drugs, you remain at relatively higher risk to suffer from the disease of Charcot Marie Tooth.(2)
Is There A Blood Test For It?
Yes, doctors have recently found genetic test i.e. blood test to diagnose the problem of Charcot Marie Tooth. However, any neurologist recommends for genetic tests only when other tests fail to diagnose your problem and you continue to experience CMT related symptoms. Accordingly, pathologists draw a blood sample or a combination of your blood sample and saliva sample to detect a few of the common genetic mutations or defects responsible to cause CMT.(3)
Genetic tests provide detailed information about Charcot Marie Tooth disorder to help in making key decisions related to family planning. However, it is essential for you to undergo genetic counseling before you should go for the genetic test/blood test so that you always stay aware of the positive and negative aspects related to your diagnose procedure.(4)
Signs and Symptoms of Charcot Marie Tooth
Even though signs and symptoms in case of Charcot Marie Tooth patients vary largely, most of the individuals experience a group of following symptoms-
- Weakness in ankles, feet, and legs
- Loss of muscular bulk in both feet and legs
- High arches in the foot area
- Hammertoes or curled toes
- Reduction inability to walk or run and other physical activities
- Difficulty in lifting the foot at his/her ankle i.e. foot drop
- Gait i.e. awkward step or higher than any normal step
- Falling or tripping frequently
- Loss of any feeling or reduction in sensation in the feet and legs(2)
To conclude, we should say that as Charcot Marie Tooth is a type of inherited disease, people, whose immediate family members have suffered or currently suffering from Charcot Marie Tooth remain at higher risk to develop the same problem in their near future. Based on the aforementioned fact, doctors recommend genetic test i.e. blood sample tests to identify and confirm the disease of Charcot Marie Tooth.
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