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Charcot Marie tooth disease has been sort into various type depending upon the genes affected and the eccentric of neuropathy triggered by it . Charcot Marie Tooth disease Type 2 is a different type of neuropathy when compared to other CMT disease types because the pathological mechanics responsible for it is dissimilar . Charcot Marie Tooth disease is also have it off as familial sensorimotor neuropathy because it can involve both sensational and motor nerves of the peripheral nervous system .
What Is Charcot Marie Tooth Disease Type 2?
Charcot Marie Tooth disease type 2 is a eccentric of sensorimotor neuropathy in which the chemical mechanism of nerve damage the neuronal degeneration . It take place due to variation seen in ATP1A1 gene . It involves the damage to the axons of neuronal cadre which make the neuropathic symptoms . It is distinct from other type of Charcot Marie Tooth diseases because it is not associated with demyelination of heart roughage as see in have types.[1]The pattern of heritage is autosomal dominant type but a few of its subtypes have been find lately with the autosomal recessionary case of inheritance .
The degeneration chemical mechanism of neuronic axons is unremarkably by Wallerian degeneration . It is an active process of devolution in which the axon are damaged in a retrograde fashion towards the cell body.[2]After axonal impairment , there can be demyelination due to loss of Schwann cellphone and clearing of debris with the help of macrophage . It is a slowly work up sensorimotor neuropathy which can progress till the 6th decade and sometimes the symptom do not get much severe till later stage of the disease .
It is a peripheral neuropathy affecting the distal - most parts of the nerve fibre . The decided feature is that it can move both myelinated and unmyelinated nerve fiber . The appearance of the symptom is generally seen in the first two ten of lifetime . It is characterized by slowly progressive muscle weakness found first of all in distal - most parts of the lower limbs and then involves upper limb also . Muscle wasting and atrophy could also be seen in it . Difficulty in take the air and other activities is the first symptom see by the patients . Due to the affair of the lateral compartment of the lower tree branch , it can also face as understructure drop .
On forcible examination muscle wasting , bony deformity due to persistentmuscle spasm , etc . can be see . Deep tendon physiological reaction are seriously diminish or even lacking . Trophiculcers , skin breakdown , burn off due to non - sensation , non - healing lesions , etc . can be found on the skin .
script weakness go on when the muscles of the upper branch are involve and there is difficultness in helping hand movement , finger command , handwriting , etc . brook by the patient . Muscle cramps and pain in the neck are sometimes associated with it . Sensory going of the associated hide and other tissues with pins and needle sensation , tingling , etc . is seen in early stages . Usually , the pain and temperature brass roughage miss myelination and are spared in this disease but it can be involve sometimes in Charcot Marie Tooth disease character 2 because the chemical mechanism is axonal decadency and not the demyelination .
Conclusion
Charcot Marie Tooth disease case 2 is a sensory and motor neuropathy inherit from the parents most unremarkably as an autosomal prevalent approach pattern . It is usually link with Wallerianfamily history of standardised neuropathies in the parents and other old generations . Even a single parent if affect is sufficient to transport the variation in the next propagation . A few other subtypes have been found in recent enquiry which are autosomal recessive in nature .
reform-minded muscle impuissance and deprivation of various cutaneous and deeper sensations with a slow progression is a characteristic feature of speech of the Charcot a tooth disease . The common age of presentation is 1st and 2nd X of liveliness . The intimacy of both system serve it to speciate from other character of peripheral neuropathy . blood-related marriages should be avert and prenatal detection of the mutation in the fetal DNA could be helpful in the prevention of the disease in future generations .
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