Encyclopedia > Joubert syndrome

  Article Content

Joubert syndrome

Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis[?] and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea[?], sleep apnea, abnormal eye and tongue movements, and hypotonia[?]. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation.

Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.

The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

Based on http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm



All Wikipedia text is available under the terms of the GNU Free Documentation License

 
  Search Encyclopedia

Search over one million articles, find something about almost anything!
 
 
  
  Featured Article
Sustainable competitive advantage

... superior product quality extensive distribution contracts accumulated brand equity and positive company reputation low cost production techniques patents ...