Joubert syndrome is a rare genetic disorder that impairs normal brain development. At first, it affects each child in a different way, causing mild to severe symptoms.

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What is Joubert's syndrome?

The disorder is hereditary and usually noticeable in the first months of life. Although there is no precise data, it is estimated that it occurs in one out of every 100,000 live births.

As a result, the genetic mutation compromises the parts of the brain responsible for cognitive and motor functions. In addition, the brainstem, which connects the brain and spinal cord, is impaired.

Symptoms of Joubert's syndrome

According to the degree of the syndrome, the individual may have more or less severe symptoms. In general, the condition presents:

• Involuntary movements in the eyes.
• Delay in the process of speaking and learning other information.
• Weakened muscle tone (that is, the muscles are quite soft).
• Involuntary movements in the muscles (spasms) that cause difficulty in walking and picking up objects, for example.
• Lack of motor coordination and balance.
• Fast-paced breathing: the child is panting all the time.
• Physical deformities, such as cleft lip and palate, wide eyes, broad forehead, extra fingers (polydactyly), changes in tongue anatomy.
• Finally, the syndrome can cause complications in the functioning of the liver, lungs, and kidneys.

Causes

It is a genetic condition; that is, the main cause is related to various mutations in the genes. In the case of Joubert syndrome, some individuals have more than 35 distinct abnormalities in their genes.

The root of the mutation comes from family inheritance: so all it takes is for one of the parents to carry the modified genes to pass them on to their children. Furthermore, the syndrome can manifest itself randomly, without involving a family history.

Diagnosis of Joubert syndrome

In addition to observing the physical signs of the disorder, imaging tests (MRI and CT scan, for example) are needed to prove the malformation of the brain and brainstem. An interesting feature is that the brainstem part is shaped like a molar tooth.

Another way to complement the diagnosis is the genetic test, which identifies the typical mutations of the syndrome. However, depending on the degree of the syndrome, suspicion and investigation only occur when the child is at the stage of crawling and the first words, which come out with difficulty.

Sometimes the physical characteristics are confused with other conditions, so it is essential to have the support of several specialists to avoid possible misunderstandings.

Living with the syndrome

There are still no treatments capable of reversing the condition. On the other hand, support therapies can help the child to develop better. Physiotherapy, speech therapy, psychotherapy, and activities that stimulate the brain are fundamental in this regard.

In addition, frequent follow-up with pulmonologists, ophthalmologists, and other physicians helps to control complications arising from the syndrome.

But it is worth reinforcing that medical monitoring varies according to the degree of mutation, which may require more or less care. Therefore, the need for the use of medication is also related to the problems present in the individual.

References: Cleveland Clinic; National Organization for Rare Disorders; and National Library of Medicine.