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What is Joubert Syndrome?
Joubert Syndrome is an extremely rare pathologic condition of the brain in which there is underdevelopment of the cerebellar vermis and the brain stem . The cerebellar vermis control the balance and coordination of the body whereas the brainstem assure the critical functions of the physical structure like swallow up , breathing etc . A child with Joubert Syndrome will present with an abnormally fast external respiration , will have hypotonia , abnormal eye movements , delayed developing andataxia . There will also be sure seeable strong-arm malformation like excess fingers or toe , fissure back talk or palate , and tongue abnormalities . The child may also have bouts of seizures .
Majority of cases of Joubert Syndrome are inherit and this disease is inherited in an autosomal recessionary signifier which means that a copy of the defective gene causing this stipulation should be inherited from each parent to get this disease . Studies have shown that there are at least 10 genes which may lead in the development of Joubert Syndrome of which the most common are NPHP1 , AHI1 , and CEP290 .
What Causes Joubert Syndrome?
As posit above , Joubert Syndrome is cause due to faulty factor as a result of which there is underdevelopment of the cerebellar vermis and the brain-stem which results in constipation in the functions that these body structure perform which are bearing and muscular tissue ascendency , restraint of heartbeat , and temperature control . There have been at least 10 genes that have identified to be responsible for causing Joubert Syndrome of which the most common are NPHP1 , AHI1 , and CEP290 genes .
What are the Symptoms of Joubert Syndrome?
The symptom of Joubert ’s Syndrome are quite variable and can range from very mild to super grave calculate on the extent of the disease . fry with Joubert ’s Syndrome will have the following :
It should be remark here that all these symptoms , except the rapid breathing are a part of the brain malfunction and is not a part of the disease process and hence these abnormalities have a potential to ameliorate over time .
How is Joubert Syndrome Diagnosed?
In case if Joubert ’s Syndrome is suspected in a child , then the good elbow room to diagnose is with an MRI scan of the head which will clearly show an developing cerebellar vermis and brainstem which will potentially confirm the diagnosing of Joubert ’s Syndrome .
How is Joubert Syndrome Treated?
The treatment for Joubert ’s syndrome is basically symptomatic and supportive . The developmental hold shown by the child can be deal withphysicaland occupational therapy to make the child somewhat independent and be able to put his or her idea across . The epilepsy due to Joubert ’s Syndrome can be do by with anticonvulsant . handle a child with Joubert ’s Syndrome postulate a homocentric crusade from multiple specialties like nephrologists , ophthalmologists , geneticists and brain doctor . Liver and kidney social function will have to be checked on a steady groundwork to see whether they are functioning usually . As stated above , some of the abnormality due to Joubert ’s Syndrome like developmental wait and job with learning and behavioral problems incline to get better as the kid grows and with appropriate therapy despite the ongoing disease cognitive process of Joubert ’s Syndrome .
What is the Prognosis of Joubert Syndrome?
The prognosis for nestling with Joubert ’s Syndrome depends on whether the cerebellar vermis and the brainstem is part develop or is wholly lacking and also the extent and severity of the symptoms . In character of tyke who spring up complications due to ventilation problems due to Joubert ’s Syndrome then the prognosis is not all that effective but if hat vista of the disease is controlled then the forecast is quite a minute better . fry with mild human body of this upset will have minimal motor disablement and good mental exploitation while children with severe form may have severe motor disability , impaired mental development , and problems with functioning of various life-sustaining organs of the body due to Joubert ’s Syndrome .
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