Genetic diseases: Joubert syndrome

Definition

In today's post on genetic diseases, we'll discuss Joubert Syndrome. It's a very rare congenital neurological disorder that can be confused with autism. It can cause serious complications, as it primarily affects the brain.

Causes

Joubert syndrome is caused by an alteration in ciliary proteins essential for the structure and function of neurons and organs such as the kidneys, liver, retina, and hearing. Approximately 34 mutations are currently known, and this disease is believed to manifest in multiple organ systems.

Genetics of the disease

Joubert syndrome is a rare genetic abnormality, autosomal recessive (that is, for this heritable characteristic to occur, the child must receive the gene from both parents), which affects the cerebellum and appears due to the absence or low degree of development of the vermis (narrow, worm-shaped structure between the hemispheres of the cerebellum).

Symptoms

Among the most common symptoms we can highlight the loss of muscle tone, hyperapnea, Lack of coordination in the movement of body parts , abnormal eye movement, general developmental delay, mental retardation of varying degrees, etc. Symptoms only appear in the patient's first years, and the person may be born with the genetic disorder. However, if they do not show symptoms within a few months or years, the disease will remit, and the individual will be healthy. If, on the other hand, symptoms persist, the condition can be treated, but the condition will be permanent.

Diagnosis

Joubert syndrome currently has no cure, and neuroradiology (MRI) and clinical findings are essential for diagnosis. Prenatal diagnosis is possible through genetic testing when the two mutations causing the disease have been previously identified in an affected family member. www.genotica.com We have tests that study this disease, such as NGS-SEQ+CNVs-Joubert syndrome from Lorgen.

Treatment

Currently, available treatments are palliative, as Joubert Syndrome has no cure. These are usually therapies to improve speech and movement. It is important that patients' cognitive and behavioral aspects be evaluated by professionals to advise on possible treatments.