It is a hereditary disorder which means it can be inherited from one’s parents with their genetic material. The patients suffering from this disease should be well known to the inheritance pattern of it. It follows the autosomal dominant type of inheritance in most of the cases. In this type of inheritance, the patient suffering from the disease can transmit mutated genes in the next generation in 50% of the offsprings if only one dominant allele is present and can transmit the disease to 75% of the offsprings if both the dominant alleles are present. Similarly, if both parents are suffering from this order then there are chances of 75% to 100% transfer of the disease in the offsprings depending upon the number of dominant alleles present in them.[1]
What Are The Ways To Prevent Charcot Marie Tooth Disease?
So for effective prevention of the Charcot Marie tooth disease, it is very important for the affected patients to avoid consanguineous marriages that is marriage within their own family of blood relatives. Two patients suffering from this disease should not marry each other because the chances of disease inheritance are very high in such cases with both affected parents than as compared to the cases with one parent affected.
Appropriate genetic counseling with the help of a genetic counselor is necessary to prevent the disease from occurring in the offsprings. Risk understanding about the inheritance of the disease must be done to properly plan the child who is disease-free. Prenatal testing of the fetal chromosomes could be done in cases of some types of inheritance to detect the mutated genes in it and the couple can make the decision for keeping or aborting the fetus. Beforehand genetic testing of the couple could be done to find the defective genes in them so that the appropriate advice could be given to them about the planning of babies.
Charcot Marie tooth disease is an incurable disease and despite various researches, no effective treatment has been found till date for it. The Wallerian degeneration and demyelination is a non-treatable type of pathology because the mechanism to redevelop the myelin sheath or the axons has not been found yet. A few of the latest researches have shown promise in this field with a target on the myelin metabolism processes and supplementation of lipid material for its development but these are in their initial phases only.[2]
Does Charcot Marie Tooth Disease Reoccur?
Since it is an incurable disease, the question of recurrence does not arise. Because recurrence occurs only after the disease undergoes remission followed by complete cure which is not seen in the case of Charcot Marie tooth disease. Even relapse of the disease cannot be defined because it is a progressive disease and no drug or treatment has been detected which could slow the progression of this disease.
Symptomatic treatment of the disease based upon the different difficulties encountered by the patients is done to improve the quality of life of the patient. Various surgical modalities are available to correct the deformities suffered in this disease.
Conclusion
Charcot Marie tooth disease is a hereditary disease with an autosomal dominant type of pattern of inheritance. It is very much helpful for the patients suffering from this disease to understand the inheritance patterns because this will not only help them to carefully select their marriage partners but also will prevent the disease from propagating in the future offsprings. Genetic counseling is the best method for prevention of such inheritable diseases. The help of a genetic counselor could be sought and proper advice should be taken from them.
There has been no treatment found till date which could either cure or slow the progression of Charcot Marie tooth disease. Various research projects and animal studies are going on to find the technique of myelin regeneration and development so that various other demyelinating disorders can also be cured along with this disease.
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