The genes which were responsible to cause CMT were found in around 1607 patients. These patients DNA was sent to the authors for further genetic testing. Further, it was done to determine to different subtypes which can occur in the UK population.
- As per the results, it was found that the molecular diagnosis was found in 62.6% of the patients where they attended the inherited neuropathy clinic.
- Around 80.4% of patients were found suffering from CMT1 i.e. demyelinating CMT)
- In 25.2% patients, the CMT2 i.e. Axonal CMT was discovered.
- Further, the mutations of CMT’s in PMP22, MPZ, GJB1, and MFN2 were accountable for around 90% of the molecular diagnosis. And, the mutations in other remaining genes were rare.
There are four common CMT causing genes which are responsible for around 90 of the CMT cases. Further, a diagnostic algorithm is done based on the results using a clinical practice.
Charcot Marie Tooth Breathing Problems:
- Over the course of time, plenty of the people have been suffered due to CMT disease lung breathing problems. Some of the patients have also reported some sort of phrenic nerve impairment. For the cause, the phrenic nerve intervein the diaphragm which is the basic muscle which does the inhalation process.
- In this case, a malfunctioning phrenic curve can lead to many of the symptoms like weakness, exercise, sleep apnea and even postural discomfort.
- Here, in this case, if you are having CMT and have difficulty in breathing, you can discuss the same with your doctor. A medical person will be the best which can curb this issue and this will enable you to breathe peacefully and calmly.
Charcot Marie Tooth Anesthesia:
CMT is more often known as an Autosomal dominant disease which is caused by a series of complications inside the genes. But, the relation between CMT and Anesthesia is much more which everyone needs to take into consideration.
Generally, Anaesthesia is carefully selected and even the total intravenous anesthesia is used without or with muscle relaxation. Further, the neuro blocks have been successfully performed and in fewer cases, the ultrasound guide is used for releasing the nerve blockage for postoperative analgesia.
In some of the rare cases, muscular response to the neurostimulation can be abnormal and in some cases, quite low.
Procedure of Anaesthesiologic:
- In plenty of the case studies, thiopental dosages are needed for an induction in CMT. But in patients who were suffering from neuropathy, their dosages were much higher.
- If we see from a theoretical point of view, the use of nitrous oxide can cause neurotoxicity with the enabling of methionine synthase. Such a thing is known as “Moderate to a significant risk of Potential Toxicity”.
Charcot Marie Tooth Diagnosis:
In the overall diagnosis treatment, it is highly recommended that you consult a specialized doctor in this case. Here, the doctor will conduct a physical exam and may check for:
- Significant signs of muscle weakening in the arms, feet, hands, and legs
- A decrement in the muscle bulk of lower legs which results to look like an inverted champagne bottle.
- Reduction in the reflexes capabilities
- Loss of Sensory in feet as well as hands
- Foot Deformities such as hammertoes and high arches
- Other Orthopedic issues such as hip dysplasia and scoliosi
Now, after the above physical examination, your doctor might also recommend you to perform the given tests:
- Nerve Conduction Test
In this test, it measures the speed of the electric signals and the strength through the nerves. Here, electrodes which are placed on the skin transfer small electrical shocks for the stimulation of the nerve. A response which is delayed in nature can indicate a nerve disorder like the CMT.
- Electromyography (EMG)
In this test, a thinner needle electrode is pierced through the skin into the muscle. Now, you just need to relax as the electrical activity is measured as and when you will gently tighten the muscle. Here, the doctor can determine the distribution of disease by performing testing on different muscle groups.
- Nerve Biopsy
Here, a tiny piece of peripheral nerve is taken out from the calf area with the help of incision technique. Further, with the help of Laboratory analysis, it differentiates the CMT straight from the other nerve disorders.
- Genetic Testing
Genetic testing is a type of testing which is capable of detecting almost any type of common genetic defects which can lead to Charcot Marie Tooth Disease. Such a test is done by taking a blood sample and it gives people much more information about their disease.
As per the recent advancements in Genetic Testing, It has been made much more comprehensive and affordable. However, before actually going for the Genetic Testing, you must opt for a Genetic Counseling. Here, in Genetic Counseling, you can get an in-depth idea of the pros and cons of Genetic Testing. After which, if you find it suitable, you can go for it and positive results can come to you, sooner or later.
Charcot Marie Tooth Disease Prognosis:
At present, still, there is no cure for CMT which can eliminate it straight from its roots. But, still, there is a series of some Prognosis which everyone must take into consideration
- Deformity in Foot, hand which is causing extreme pain while doing the daily activities
- Lifelong Disabilities which can worsen the condition to a far extent
- In case of Mental Functioning, it is not affected at all.
- Longevity can be lifelong even if you are suffering from Charcot Marie Tooth Disease
- People who are suffering from CMT live productive lives if they take effective care of themselves.