| Joubert Syndrome |
Website Links For Joubert Syndrome |
Information AboutJoubert Syndrome |
| CATEGORIES ABOUT JOUBERT SYNDROME | |
| neurology | |
| genetic disorders | |
| syndromes | |
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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 Gene s that are Mutated in individuals with Joubert syndrome have been identified. Mutations in a gene of unknown function called ''AHI1'' is associated with a subset of Joubert syndrome cases. In some rare cases of Joubert syndrome, mutations have been found in ''NPHP1'' which is also associated with nephronophthisis, a cystic kidney disorder. REFERENCES
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