Joubert syndrome

Joubert Syndrome

Joubert syndrome (/ʒuːˈbɛər/; French: [ʒubɛʁ]) is a rare genetic disorder that affects the area of the brain that controls balance and coordination. The syndrome is named after the French neurologist Marie Joubert who first described it in 1969.

Etymology

The term "Joubert syndrome" is derived from the name of the neurologist who first identified the condition. The word "syndrome" comes from the Greek "σύνδρομον" (sýndromon), meaning "concurrence of symptoms," or "running together."

Symptoms

Joubert syndrome is characterized by a specific finding on brain imaging called the "molar tooth sign," which refers to the abnormal appearance of the midbrain and hindbrain, resembling a tooth. Other symptoms may include hypotonia (low muscle tone), ataxia (difficulty coordinating movements), intellectual disability, irregular breathing patterns, and retinal dystrophy (a condition that affects the retina of the eye and can cause vision loss).

Causes

Joubert syndrome is caused by mutations in any one of at least 35 different genes. These genes are involved in the function of cilia, tiny hair-like structures that line the surface of cells and are involved in cell signaling and sensory perception.

Diagnosis

Diagnosis of Joubert syndrome is based on the presence of characteristic clinical features and the molar tooth sign on brain imaging. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for Joubert syndrome. Treatment is supportive and depends on the symptoms. Physical, occupational, and speech therapy may be beneficial. Regular follow-up with various specialists is important.

Related Terms

• Ciliopathy
• Leber congenital amaurosis
• Nephronophthisis
• Meckel syndrome

See Also

• List of genetic disorders
• List of rare diseases

External links

• Medical encyclopedia article on Joubert syndrome
• Wikipedia's article - Joubert syndrome

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