PRICKLE1

Management

So far, there is no specific treatment for PRICKLE1-related conditions. Therefore the therapy is focused on the control of the symptoms, such as the seizures.
In contrast with other PM, which typically relies on 2 or more drugs, PRICKLE1-related PME usually respond to therapies with just one drug. Usually the first choice is valproic acid (e.g. Depakine/Depakote).
Sometimes avoidance of bright lights and striped visual patterns as well as use of tinted glasses may be used.
With regard to movement problems, patients may require assistive devices or eventually wheelchair. Moreover, consultation with a speech pathologist can often be helpful.
Genetic counseling is recommended for patients and their families.
Moreover, supportive and rehabilitative measures towards specific disabilities, as well as social and psychological support, are paramount.