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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. more...

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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.

Two genes that are mutated in individuals with Joubert syndrome have been identified. Mutation in gene of unknown function called AHI1 is associated with the majority of Jourbert syndrome cases. In cases where an individual has Joubert syndrome with progressive kidney disease to a gene called NPHP1 is mutated in addition to AHI1.

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DVD & VIDEO: HHHHH Gallivant DVD retail
From Independent on Sunday, The, 5/22/05 by Iain Millar

Don't be put off by its avant-garde credentials (mixed film stock, out of synch sound, found footage et al); Andrew Ktting's quirky, playful and touching film of a coastal road-trip around the British mainland is a totally engrossing delight. In the company of his grandmother Gladys and his six-year-old daughter Eden (who has Joubert Syndrome, which is likely to shorten her life and requires her to communicate using sign language), Ktting constructs the filmic equivalent of a picture-postcard scrapbook that will keep your cockles warm for days afterwards. IM

Copyright 2005 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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