Management

Treatment of clinical manifestations is symptom-based and supportive and most effective if it is multidisciplinary including the collaboration of the different medical specialists and of the other professionals. Cataracts are treated surgically. Developmental delay/intellectual disability and feeding problems are treated according to standard practice for these conditions. Seizures are treated by the neurologist based on the type. Physical therapy can be used to treat motor dysfunction secondary to progressive spasticity to maximize mobility and the use of medical equipment. Cryptorchidism may need to be treated with surgery. Hormone supplementation may be occasionally undertaken to treat hypogonadism.