Management

There is no specific curative treatment available for ARMC9-related Joubert Syndrome 30. Management should be directed to the symptoms of the patient.
•    Intellectual impairment (Neurological abnormalities): surveillance and management by a neurologist in case of seizures
•    Speech impairment: supportive training by trained speech therapist with monitoring by pediatrician for achievement of developmental milestone
•    Behavioural / learning difficulty: intervention by pediatrician or child psychiatrist

Genetic Counseling
Pathogenic variants in ARMC9 are inherited in an autosomal recessive manner. All affected individuals with Joubert syndrome 30 related to the ARMC9 gene inherit the variants from both parents. Thus, the recurrence risk for future pregnancies of the parents is 25%. Prenatal testing and preimplantation genetic diagnosis are feasible.