What are the symptoms of Joubert syndrome?

Many of the clinical symptoms of Joubert syndrome are apparent in infancy and most affected children have delays in gross motor milestones. The most common features are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone.

What is the life expectancy of Joubert syndrome?

Mean age of death in this cohort was 7.2 years, and the most prevalent causes of death were respiratory failure (35%), particularly in individuals younger than 6 years, and kidney failure (37.5%), which was more common in older individuals.

What causes Joubert syndrome?

Joubert syndrome is caused by mutations in 35 or more genes. It can be inherited within families or happen by chance (with no known family link). The genetic mutations cause cilia to form incorrectly. Cilia are like tiny antennas on cells that help them communicate with each other.

What is Joubert syndrome illness?

Joubert syndrome is disorder of brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord).

Is Joubert syndrome a disability?

Mild to severe intellectual disability is common, but some people with Joubert syndrome have normal intellectual abilities. Distinctive facial features are also characteristic. These include a broad forehead, arched eyebrows, droopy eyelids ( ptosis ), widely spaced eyes, low-set ears, and a triangular-shaped mouth.

Can Joubert syndrome be cured?

There is no cure for Joubert syndrome, so treatment focuses on the symptoms. 6 Infants with abnormal breathing may have a breathing (apnea) monitor for use at home, especially at night. Physical, occupational, and speech therapy may be helpful for some individuals.

Can you live a full life with Joubert syndrome?

Life Expectancy In some cases, the cerebellar vermis is almost fully developed, resulting in mild symptoms. The mildest form of the disease often results in mild lapses in motor control and mild mental retardation. These patients can live full, productive lives with medical and familial support.

Is there a cure for Joubert syndrome?

Can Joubert syndrome be detected before birth?

Joubert syndrome and related disorders is a congenital anomaly with a high risk of family recurrence, and MTS detected by prenatal sonography enables physicians to differentiate JSRD from other midbrain-hindbrain malformations.