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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. Additional recommended knowledge
PresentationThe disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem (molar tooth sign). 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. The syndrome was first identied by pioneering pediatric neurologist Dr. Marie Joubert in Montreal Canada, while working at the McGill Neurological Institute. TreatmentTreatment 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. PrognosisThe 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. GeneticsMultiple genes that are mutated in individuals with Joubert syndrome have been identified:
References
Categories: Neurology | Genetic disorders | Syndromes |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Joubert_syndrome". A list of authors is available in Wikipedia. |