The Center for Cerebellar Malformations
Treatment & Prognosis
Treatment
Patients with Joubert syndrome (JS) are treated
according to their symptoms. For
example, infants with breathing difficulties should have their vital signs
monitored. Other treatments can
include, but are not limited to infant stimulation and physical, occupational,
or speech therapy as indicated.
Prognosis
JS affects individuals to varying degrees across
the spectrum of mental and motor development. Some patients are relatively unaffected, while others are
severely affected. Individuals may
be high functioning in many areas.
Other patients have moderate mental retardation and severe motor
disabilities.
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.
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Joubert Syndrome &
Related Cerebellar Disorders Links