Disease at the level of genetics - Joubert's syndrome

It's sad, but despite the development of medicine, there are diseases that we can not cure. For example, Joubert's syndrome to many people seems to be just a beautiful name without a clear interpretation, and this is a genetic disease of the cerebellum, affecting the life and health of a person. What is it, a fatal bad luck or a disease that can be prevented? Maybe it can be cured or even identified at an early stage? Do you know anything about the mysterious syndrome? We will see.

What is this attack?

So, the Joubert syndrome. What it is? If in a word, it's a disaster. If we give a more detailed answer, then we can say that this syndrome is a rare, fortunately, disease, accompanied by an underdevelopment or complete absence of a cerebellar worm, responsible for balance and coordination. The patient has a poorly formed brain stem and therefore there may be a malfunction of breathing until stopping. The surrounding can notice the wrong movements of the eyes and the tongue, the lowered muscle tone. The diagnosis is made by doctors after clinical observation and identification of characteristic signs of hypoplasia of the cerebellum worm, as well as lengthening and thickening of its anterior legs. Otherwise, this is called the "molar tooth" symptom. Identify these violations can only after an MRI examination of the brain. Alas, Joubert's syndrome can be inherited.

By genes

To date, identified twenty genes whose mutations lead to the notorious syndrome. All the disorders related to it are rare autosomal recessive disorders with a characteristic development of the typical and distinctive defects of the cerebellum and brainstem. In addition to these pathologies, Joubert's syndrome is accompanied by hypotension, developmental delay, apnea and eye diseases. Children with this syndrome often do not live up to the diagnosis. The only positive moment is a small prevalence of the disease - one case per 80 thousand people.

Historical reference

Joubert's syndrome was first diagnosed in 1969 by the French neurologist Marie Joubert. She examined four brothers and sisters with apnea, anomalies of the eyes, mental retardation and the missing cerebellar worm. After the conducted studies it turned out that the syndrome of this type is found all over the world without racial and ethnic differences. You can fix the disease already at the stage of development of the human embryo, since it is considered that the error in the development of the embryonic brain leads to manifestations of the syndrome. In practice, many syndromes with genetic mutations have similar manifestations, but Joubert's syndrome is distinguished by eye abnormalities, hypotension in infancy and respiratory disorders.

Symptoms and manifestations

If you examine Joubert's syndrome, the symptoms can be determined by a nervous reaction; There is a clinical heterogeneity in different variations, cognitive impairment, difficulty with speech, convulsions. More than a third of patients experience auditory disorders and behavioral problems. Rarely, but it happens that there is hydrocephalus and occipital encephalopathy. A quarter of patients have kidney disease: cystic dysplasia and congenital fibrosis of the liver. Like people with Down's disease, people suffering from Joubert's syndrome can have stereotypical facial features: a long face, a prominent forehead, high arched eyebrows, a triangular mouth, an upturned nose, prominent chin and low ears. Children have a retarded development and a problem with walking. Often, auxiliary devices for movement are required.

How to treat

Do you really have to accept it? By no means, achievements in genetics gave hope for improvement and treatment of the disease. We first have to study the family history, the ethnic component, to conduct a complete examination of the patient. Problems with breathing require monitoring of apnea, special means for admission and hardware support of breathing. Sometimes neurosurgical interventions and medication for controlling convulsions are necessary. In a word, you can treat Joubert's syndrome, the causes of which have been studied and understood.

Forecast for the future

Now is not so hopeless the situation of people who have found Joubert's syndrome. The photo of such patients does not immediately give a complete picture of their experiences, and external signs manifest themselves closer to old age. Some can live an independent and rather productive life, however, provided that they support life-long therapy. A person should regularly undergo a survey of all organs, monitor the availability of necessary drugs. External shortcomings can manifest through congenital anomalies, such as hare lip, polydactyly, or abnormal oropharyngeal structure. Sometimes there may be an excessive number of vessels in the brain. This is really a time bomb that can rush at any moment. The prognosis for further life depends entirely on the degree of damage to the cerebellum. In other words, the patient can experience minor motor or mental disturbances, as well as get a disability and be in a serious condition without any hope of improvement. With such a syndrome, children with breathing disorders should not be left unattended. In a dream, they can simply suffocate. A regular physical examination is necessary in order to monitor the condition of internal organs. The physical well-being of the child is beneficially affected by exercise and breathing exercises. In the treatment can be shown surgical measures, medicinal, as well as minimally invasive surgery.