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What is Roussy Levy Syndrome?
Roussy Levy syndrome is a congenital disease . Roussy Levy syndrome leads to disruption of signals between Schwann cells and neurons which are very much essential for survival of the fittest and differentiation of the spunk mobile phone . Let us take care at the grounds , symptoms , diagnosing and intervention of Roussy Levy syndrome .
nerve cell are the introductory components of nervous system . They are produced at a fast rate in infant and by the old age of 5 years , maximum phone number of neurons postulate for life time is produce . It is still a matter of discussion whether they have the power of dividing during brain wrong or not . It is important to know the social structure of neuron .
A neuron is composed of a cellular telephone body which contain a nucleus , cytoplasm , Nissl granules , dendrites ; a retentive extension phone called axone which is protect by myelin sheath . This case is made up of fat and protein . Myelin sheath cover the axon and asunder from protecting it , the case also increases the amphetamine of electrical signal . In the central anxious system , myelin cocktail dress is develop by oligodendrocytes whereas in peripheral nervous system , it is produce by Schwann cellphone . medulla cocktail dress does not lead continuously along the distance of axon . It covers the axon by farsighted multiple section and these division have brusk gaps in between . Myelin sheath reduces the axonal tissue layer electrical condenser . It is very significant to the nervous system as it helps in noesis , motor and sensory functions .
Roussy Levy syndrome is also known by other names :
Causes for Roussy Levy Syndrome
Roussy Levy syndrome is categorise under transmissible diseases as it is take place on to the next generation from parent . The symptoms are exhibited because of trouble in nerve conduction and dysfunction of sensory neuron . The causes of Roussy Levy syndrome revolve around genetic changes .
PMP 22 factor and MPZ cistron are the two independent genes in humans which code for acquire Peripheral Myelin Protein 22 ( PMP22 ) and Myelin Protein Zero ( MPZ ) severally . PMP22 is a vital component of myelin cocktail dress and MPZ is an important element of peripheral myelin . Mutation caused in these two main factor is the master cause for Roussy Levy syndrome . In PMP22 factor , mutation occurs by duplication of the same factor . In MPZ , variation occur is called as missense mutation which is a result of change in a undivided base in a codon and hence code for a different amino dot . Mutation in PMP22 gene is also referred to as Charcot Marie Tooth disease type 1A and chromosomal mutation in MPZ gene is referred to as Charcot Marie Tooth disease type 1B. Studies have shown that this condition is a variant of Charcot Marie Tooth disease case 1A related to duplication of chromosome 17p11.2.1
Symptoms of Roussy Levy Syndrome
The symptoms of Roussy Levy syndrome are mostly discover in babyhood and progress slowly . The symptoms of Roussy Levy syndrome are a final result of neuropathy that damage the peripheral nerves.2
Some of the most significant signboard and symptom of Roussy Levy syndrome include :
Is Roussy Levy Syndrome Inherited?
Only one copy of the defected factor is enough to express the disease . To explain , permit us conjecture a couple with affected male person and an unmoved female person . If they have two children , one nipper may receive the defected cistron from the father and get involve by the disease . The other kid might not inherit the desert factor from the sire neither be strike nor be the aircraft carrier . Here , the gender of the children to get regard would remain insignificant since this is not linked with sexuality chromosomes .
Diagnosis of Roussy Levy Syndrome
Diagnosis of Roussy Levy syndrome depends on genetic testing . In casing of Roussy Levy syndrome , probably one character of genetic examination would not help in detecting the disease as it is induce by mutations in MPZ or PMP22 factor which are responsible for causing other gene related disorders . Hence it is desired to go for more than one type of genetic tests which would help to diagnose the disease .
Treatment for Roussy Levy Syndrome
The handling for Roussy Levy syndrome is currently not available . This may be due to want of published documents or due to lack of research done on this . Many case of Roussy Levy syndrome are treated for mark and symptoms . Since this syndrome resembles Charcot Marie Tooth disease , intervention may also resemble with the treatment of the same disease . Some of the treatment which would relieve the ailments of Roussy Levy syndrome such as pain in the ass , physical strain and mental stress would be as follows :
Prognosis of Roussy Levy Syndrome
The individuals have normal animation anticipation because Roussy Levy syndrome is not a fatal one . This does not entail that the person with Roussy Levy syndrome can lead a normal life ; instead , they need orthopedical supporting equipment like crutch or wheelchair since the muscleman waste would be progressive .
Conclusion
Neurons are the structural and usable unit of aflutter scheme . They are the longest cell in the human trunk which is thought to produce only till 5 eld of years in one ’s life sentence yoke . Hence it is very important to protect them and avoid them from wrong .
Roussy Levy Syndrome is a rare familial neuromuscular disorder . It is characterized by loss of communicating between the sinew and the peripheral nerves in this disorder . Roussy Levy syndrome can be caused in individuals with only one copy of defected gene . Hence it is treated as the autosomal dominant disorderliness . This condition is also referred to as denervation which is the principal suit for the expressions of signs and symptoms of Roussy Levy syndrome . Genetic counseling with the person having family history would be more helpful .
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