Joubert Syndrome (JS) Defined
February 28, 2018
Joubert syndrome (JS) is a rare genetic condition identified by a “molar tooth sign” like shape of the brain under an MRI due to a decreased vermis. Other symptoms of JS include:
- Delayed milestones and intellectual disability
- Abnormal breathing – rapid breathing
- Decreased muscle tone
- Abnormal eye movement
Joubert syndrome is one of a growing group of disorders called “ciliopathies” caused by dysfunction of a part of the cell called the cilium (Lower Right). The cilium functions as an antenna for many cell types, allowing cells to communicate with each other and sense their environment during the development and function of many organs. In fact, cilia are required to sense light in the eye, odors in the nose and fluid flow in the kidneys and liver. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert syndrome.
Unfortunately, there is no cure for JS at the moment, but rather treatment is based on the symptoms experienced e.g. physical therapy for decreased muscle tones. To learn more about JS or to get social support kindly contact jsrdf.org or visit their Facebook Group Joubert Syndrome & Related Disorders Foundation.
Disclaimer: Research is still being done on Joubert Syndrome, the information gotten above is from the Joubert Syndrome and Related Disorders Foundation.