Joubert syndrome is a rare genetic disease, which primarily affects the functioning of the cerebellum in the brain. This region performs the rather vital roles of regulating bodily coordination and balance in movement. This ailment of the central nervous tissues often occurs along with retinitis pigmentosa, a gene disorder of the eyes. Also Read: Retinitis Pigmentosa: Causes, Symptoms And Treatment
The symptoms of this nervous system malformation begin to present in the affected individual right from early childhood, with infants experiencing fast-paced breathing i.e. hyperpnea, in addition to a decline in muscle growth, strength and irregular eye motions. In some instances, cleft lips, kidney damage and sudden seizures are also prominent indications.
This inherited disorder, usually acquired from pre-existing genetic defects in both parents, is named after the renowned Canadian physician and paediatric neurologist, Marie Joubert, who first described the condition in the year 1969.
Although there is no cure for Joubert syndrome, treatment measures provide constant support to effectively restore muscular activity and normal brain functions, besides improve the operations of other vital internal organs of the kidneys, lungs and liver. It is hence, absolutely essential to seek professional medical advice, once any indications of Joubert syndrome are noticed in babies and children.
Causes Of Joubert Syndrome
The reason behind Joubert syndrome is defects in not only one gene, but in as many as 10 or even 30 genes collectively present in both parents, which are subsequently passed on to the newborn. These genes, such as NPHP1, AHI1, CEP290 are all associated with brain development, which eventually code for malfunctioning proteins.
Scientists and medical researchers report that these genetic defects and improper protein byproducts affect certain cellular organelles in the body known as cilia, which play a key role in cell and nerve signalling. Cilia are also involved in regulating sensory organs of smell, taste, sight and ensuring normal development, functioning of crucial body parts like the liver, kidneys and brain.
Symptoms
The distinguishing symptoms of Joubert syndrome are noticeable right from the initial stages of birth and infancy. They consist of:
Weak muscle development
Lack of coordination in movement
Abnormal pace of breathing and deficient lung functions, like in pleural effusions
Faulty peripheral vision
Decline in oculomotor functions and eyesight
Unusually large forehead with curved eyebrows
Kidney complications, similar to glomerulonephritis
Slow intellectual growth
Hormonal imbalance in the endocrine system, such as in precocious puberty
Diagnosis
The paediatrician initially analyses all external signs of the patient, besides recording a complete family history of prior medical conditions in both parents.
A visual scan of the brain is obtained via MRI (Magnetic Resonance Imaging), which when it displays a typical molar tooth sign in the area of the cerebellum, is confirmed to be due to Joubert syndrome.
In addition, poor advancement of cognitive abilities, memory and brain activities are observed in affected children.
The internal organs are also analysed by means of ultrasound, CT scans, to detect for any kidney damage or instances of fibrosis, cirrhosis of the liver. Also Read: Hepatic Cirrhosis: Causes, Symptoms And Treatment
Treatment
Since infants and kids with Joubert syndrome face significant intellectual disabilities, as well as the absence of hand-eye coordination, feeble muscles and lower body strength, treatment options for the same comprise remedial techniques to address these concerns.
The pertinent curative protocols include speech therapy, physical therapy and prescription medications to improve muscle power, stamina.
Also, this genetic illness progresses with increasing age and hence, critical visceral features of lungs, liver, kidneys are regularly monitored, to immediately identify any problems and rectify them. Furthermore, the doctor conducts frequent eye exams and in-depth scans, to promptly identify any damage, remedy it entirely and ensure optimal development of visual organs.
