Joubert syndrome is a rare neurological disorder that affects brain development. It is caused by mutations in genes that control formation of the cerebellar vermis and brainstem. Characteristics include abnormal breathing, lack of muscle tone, poor coordination, and potential issues with kidneys and seizures. While there is no cure, treatment focuses on management of symptoms through physical, occupational and speech therapy.

1. I am going to discuss a neurological disorder that is known as Joubert
Syndrome which is not much common and its occurrence is rare i.e one
in 100,00 0 new borns would be a sufferer of this syndrome. Joubert-
Boltshauser syndrome, cerebelloparenchymal disorder IV, familial
cerebellar vermis agenesis, cerebello-oculo-renal syndrome are the
synonyms for Joubert's Syndrome. It was first diagnosed in 1969 by Dr.
Joubert and diagnosis is confirmed with MRI, which shows classic
neuroradiological finding of a complex midbrain-hindbrain
malformation known as the 'molar tooth sign' (MTS), originating from
the association of cerebellar vermis hypoplasia, horizontally-oriented
and thickened superior cerebellar peduncles and a deepened
interpeduncular fossa . Joubert's syndrome is transmitted as an
autosomal recessive trait which occurs due to mutations in five genes
of which AHI1, NPHP1 and RPGRIP1L are identified and isolated.
The following image from brains of healthy individuals and those
suffering from Joubert’s syndrome might give an idea of how the
various regions in the brain are malformed in this particular
neurological disorder.

2. Images of a healthy brain and one suffering from Joubert’s Syndrome
(Image Credits University of Washington,Department of Paediatrics)

3. Joubert’s Syndrome occurs due to malformation or poor development
of the vermis region in the brain, this is the area which controls balance
and coordination. In Joubert’s Syndrome, the brain stem is malformed
along with the vermis; the brain stem being the control center for many
body functions such as breathing, swallowing and vasomotor control.
As cerebral vermis and brain stem are the areas affected, the features
common to Joubert’s Syndrome in infants are An abnormal breathing
pattern that is the earliest sign of this syndrome in infants Many infants
suffering from this condition have a characteristic appearance with a
large head, prominent forehead, a broad nose and a tendency of
keeping their mouths open. Hypotonia, Ataxia and a delay in learning
are also some of the features which are present to variable degrees in
children suffering from Joubert’s Syndrome Sometimes cysts develop
and kidneys thereby hampering the function of kidneys. Epilapsy might
also occur in certain instances
The treatment options are not available as the disease onset is during
the gestation period when the brain development starts, prenatal
testing might be helpful to screen the faulty genes very early after
fertilization, thereby replacing it with a normal allele. Treatment in
those born with this condition, is symptomatic and supportive and will
include physiotherapy, and occupational speech therapy
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