The Center for Cerebellar Malformations
Treating Patients with Joubert Syndrome
NOW AVAILABLE:
Clinical genetic
testing for mutations in AHI1, CEP290 & NPHP1
Prevention
Genetics is now offering genetic testing for mutations in the three
genes associated with JS. Mutations
in the AHI gene account for about 10% JS cases. Mutations in the CEP290 gene account for another 10% JS
cases. NPHP1 mutations occur only
in conjunction with kidney involvement and account for approximately 1% of
cases. We recommend clinical
screening for AHI1 and CEP290 to all non-consanguineous families. Please contact us for information on research testing.
Existing treatment options are limited. Physical and occupational therapy are
recommended. For patients with
breathing problems, medications (e.g. Theophylline) are available. Apnea monitor are recommended for
patients experiencing breathing difficulties. If apnea is left untreated and
unmonitored it can be a serious cause of morbidity and mortality.
Making an accurate diagnosis can help prevent
complications arising from conditions
associated with JS. Click on this link for a
letter to healthcare professionals with more details.
v Letter to Healthcare
Providers