What is Joubert disease?

What is Joubert disease?

Definition. Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and coordination — as well as a malformed brain stem (molar tooth sign).

What type of disorder is Joubert syndrome?

Joubert syndrome (JS) is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination known as the cerebellum.

Is Joubert syndrome a disability?

Social Security Disability Benefits While Joubert Syndrome does not have it’s own listing, it does qualify under two other listings: 111.06 Motor Dysfunction (due to any neurological disorder) or 111.07B Cerebral Palsy.

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.

How do you get 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.

Is Joubert Syndrome life threatening?

Some children have mild effects, with only minor symptoms and almost normal development. Others experience significant problems with development, severe impairment in function and organ involvement. Joubert syndrome can be fatal in childhood. Researchers are still studying life expectancy with this rare condition.

How rare is Joubert syndrome?

Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. However, this estimate may be too low because Joubert syndrome has such a large range of possible features and is likely underdiagnosed.

Is Joubert syndrome inherited?

Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition.