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Joubert Syndrome



Joubert Syndrome Definition


Joubert syndrome is a genetic disorder that is very rare. This disorder affects the brain areas which control coordination and balance. It was first identified by a pediatric neurologist named Marie Joubert from Montreal in Canada. The physician was then working with McGill Neurological Institute.


Joubert Syndrome Genetics


Mutations on multiple genes among patients of Joubert syndrome include: AH11 is an unknown gene and when it mutates, it is linked with a subset of cases of the syndrome; a very few cases of the Joubert syndrome could be caused by a mutation in NPHP1 which is also linked with nephronohpthisis which is a cystic disorder of the kidneys; and CEP290 gene has also been linked with Joubert syndrome and one other disorder which is Leber’s congenital amaurosis (type 10).


Joubert Syndrome Misdiagnoses


Often, these symptoms cause misdiagnosis of Joubert syndrome because they can also be signs of other disorders: cerebellar syndrome; ataxia; corpus callosum hypoplasia; learning disabilities; renal cysts; or hypotonia or (skeletal muscle disorder).


Joubert Syndrome Symptoms and Signs


Joubert syndrome is characterized by the malformation of the brain stem (sign of molar tooth) and the underdevelopment or absence of a certain brain part which is called the cerebellar vermis. The most common signs include the lack of control of the muscles or ataxia; sleep apnea; hypernea or an abnormality on the breathing pattern; abnormal tongue and eye movements; and hypotonia. Other defects include having extra toes or fingers; cleft lip; cleft palate; abnormalities of the tongue; and seizures could also occur. Retardation could also be a symptom and it ranges from mild to moderate. Other symptoms include abnormal movements of the eye; rotatory nystagmus; irregular eye movements wherein the eyes appear jerky; retardation of psychomotor skills; the inability to control movements that should be voluntary; deep, unusual breathing; abnormally deep inhalations; irregularities of the respiratory system; hypermetria; dysmetria; tremors; and weakness of the skeletal muscles.


Joubert Syndrome Treatment


The treatment that is available for Joubert syndrome is supportive and symptomatic. Several therapies could be done such as physical therapy, occupational therapy, speech therapy, and infant stimulation. These could benefit some of the patients. Infants should be constantly monitored especially those who have breathing patterns that are abnormal. The prognoses for patients that are afflicted with Joubert syndrome often vary. A few could have the mild type which comes with mild motor disability and a mental development that is normal while some could have moderate retardation of mental development and severe motor defect.


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