Joubert syndrome – Joubert Disease: Overview, Causes, Symptoms, Diagnosis And Treatment

what is joubert syndrome

Overview

Joubert syndrome is an uncommon condition in which the brains of infants and children do not grow normally. The cerebellar vermis, a brain region affecting balance and coordination, is either immature or nonexistent. Furthermore, the brain stem, which connects the brain and spinal cord, is aberrant.

Many different regions of the body might be affected by Joubert syndrome. It can cause various health issues, developmental delays, and intellectual disabilities.

Causes

More than 30 genes can be mutated to cause Joubert syndrome. These proteins are known or speculated to play roles in cell structures known as primary cilia. Primary cilia are minute, finger-like projections that protrude from the surface of cells and are involved in physical sensing and chemical signaling. Primary cilia are essential for forming and functioning many different types of cells, including brain cells (neurons) and some kidney and liver cells. Primary cilia are also required for sensory information to be perceived by the brain for sight, hearing, and smell.

Mutations in the Joubert syndrome genes cause issues with the structure and function of primary cilia. Defects in these cell structures can disrupt critical chemical signaling pathways throughout development. Although experts believe that damaged primary cilia are to blame for most of these illnesses’ symptoms, it is unclear how they cause specific developmental defects.

Symptoms

Joubert syndrome symptoms can vary greatly, even within the same family. They can range from minor side effects to severe issues in many body systems.

Depending on the body systems involved, the condition may be called “Joubert syndrome and related disorders.”

The following are the most prevalent indications in infants: 

• Abnormal eye movements, such as difficulty shifting the eyes from side to side.

• Rapid breathing.

• Delayed cognitive and linguistic development.

• Inability to control voluntary muscular movements such as walking, picking up objects, and speaking (ataxia).

• Lack of muscle tone (hypotonia).

Some Joubert syndrome patients may also have physical malformations such as:

• Cleft lip and palate.

• Distinctive facial traits (large forehead, sagging eyelids, eyes spaced farther apart, ears placed lower, triangle-shaped lips).

• Congenital hand differences (extra fingers or toes).

• Abnormalities in the tongue.

Joubert disease can impair cilia-dependent organ systems such as the eyes, particularly the retinas.

Diagnosis

Doctors look at the child’s symptoms and an MRI for Joubert syndrome diagnosis.

MRI imaging of the brain in Joubert syndrome patients will exhibit the “molar tooth sign.” The brain stem region that did not form properly resembles a molar tooth.

Joubert syndrome is diagnosed when a kid has:

• Developmental delays or intellectual difficulties.

• Hypotonia in infancy, which progresses to ataxia in childhood.

• MRI shows a molar teeth sign.

Treatment

Joubert syndrome Treatment varies from person to person, depending on how JS affects the individual.

Delays in development can be treated with:

Infant stimulation

Occupational treatment

Physical therapy

Speech therapy.

Depending on how Joubert syndrome affects your child, you may need to see a professional frequently, such as a Neurologist who is an expert in the treatment of the brain.

You can also consult with geneticists or genetic counselors. They can confirm particular gene mutations in Joubert syndrome. They can also assist families in determining who else should be tested for the transformation.

When to see a doctor

The Joubert syndrome prognosis for newborns and children is determined by whether the cerebellar vermis is partially or fully lacking. It also depends on which other physiological systems are impacted and how.

Some children are mildly affected, with modest symptoms and almost average growth. Others have serious developmental issues, severe impairment in function, and organ involvement. In children, Joubert syndrome can be fatal. Researchers are still studying life expectancy with this unusual ailment. If you find any kind of symptoms related to Joubert syndrome please contact your nearest primary care physician so that it can be treated on time.