Joubert syndrome and Related Disorders (JSRD)
JSRD is a recessively inherited condition clinically defined by congenital ataxia, hypotonia, episodic breathing dysregulation, abnormal eye movements and mental retardation. It is caused by a specific malformation of the brainstem, cerebellum, and the cerebellar peduncles, including vermis hypoplasia (see fig below a&b)
The underlying genetic cause is still unkown. There is a severe mental and motor retardation and the 5-year survival rate is about 50%. Currently there is no treatment available so the only treatment is symptomatic relief.
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