Sadly, in spite of all the development of medicine, diseases remain that we cannot cure. For example, Joubert syndrome seems to many to be just a beautiful name without a clear interpretation, and this is a genetic disease of the cerebellum that affects human life and health. Is it fatal bad luck or a preventable disease? Could it really be cured, or at least identified at an early stage? Do you know at least something about the mysterious syndrome? We will see.
What is this misfortune
So, Joubert syndrome. What it is? If in a word, then this is a disaster. If you give a more detailed answer, then we can say that this syndrome is a rare, fortunately, disease, accompanied by underdevelopment or complete absence of the cerebellar worm, responsible for balance and coordination. The patient has a poorly formed brain stem and therefore there may be respiratory failure up to a stop. People around you may notice abnormal eye and tongue movements, decreased muscle tone. Doctors make the diagnosis after clinical observations and identification of characteristic signs of cerebellar worm hypoplasia, as well as lengthening and thickening of its front legs. Otherwise, this is called a molar symptom. These disorders can only be determined after an MRI scan of the brain. Alas, Joubert's syndrome can be inherited.
By genes
To date, twenty genes have been identified whose mutations lead to the notorious syndrome. All related disorders are rare autosomal recessive disorders with the characteristic development of typical and distinctive defects of the cerebellum and brain stem. 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 thing is the low prevalence of the disease - 1 case per 80 thousand people.
History reference
Joubert syndrome was first detected in 1969 by the French neurologist Marie Joubert. She examined four brothers and sisters with apnea, eye abnormalities, mental retardation, and an absent cerebellar worm. After the studies, it turned out that this type of syndrome occurs worldwide without racial or ethnic differences. You can fix the disease already at the stage of development of the human embryo, since it is believed that an 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 failure.
Symptoms and manifestations
If you investigate Joubert's syndrome, symptoms can be identified by a nervous reaction; clinical heterogeneity in different variations is manifested, cognitive impairment, difficulty with speech, convulsions. More than a third of patients experience auditory and behavioral problems. Rarely, but it happens that hydrocephalus and occipital encephalopathy are manifested. 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 syndrome can have stereotypical facial features: a long face, a convex forehead, high arched eyebrows, a triangular mouth, an upturned nose, a protruding chin and low-lying ears. Children have a retardation of development and a problem with walking. Often, assistive devices for movement are required.
How to treat
Will you really have to put up with it? By no means, advances in genetics have given hope for improvement and treatment of the disease. First you have to study the family history, ethnic component, conduct a full examination of the patient. Respiratory problems require monitoring of apnea, special means for receiving and hardware support for breathing. Sometimes neurosurgery and medication are needed to control seizures. In a word, it is possible to treat Joubert's syndrome, the causes of which have been studied and understood.
Forecast for the future
Now the situation of people who have found Joubert syndrome is not so hopeless. Photos of such patients do not immediately give a complete picture of their experiences, and external signs appear closer to old age. Some may live an independent and fairly productive life, however, provided that they support lifelong supportive therapy. A person should regularly undergo an examination of all organs, monitor the availability of necessary drugs. External imperfections can occur through congenital anomalies, such as cleft lip, polydactyly, or the abnormal structure of the oropharynx. Sometimes there may be an excessive number of vessels in the brain. This is truly a time bomb that can explode at any moment. The prognosis for later life depends entirely on the degree of cerebellar damage. In other words, the patient can experience both minor motor or mental disorders, and also receive disability and remain in serious condition without hope of improvement. With this syndrome, children with respiratory failure cannot be left unattended. In a dream, they can simply suffocate. A regular physical examination is necessary in order to monitor the condition of the internal organs. The child's well-being is beneficially affected by physical activity and breathing development training. During treatment, surgical measures, medications, and minimally invasive surgery may be indicated .