Currently, there is no known cure for an CTU2-related disorder. Treatment of the manifestations, symptom management, and supportive care are recommended.
While there is no cure to CTU2-associated disorders, each of its manifestations can be managed by the appropriate specialty. For example, patients with developmental delay and intellectual disability may benefit from special education programs, speech-language therapy, and/or occupational therapy, with early interventions providing the most benefit. Patients with seizures can be managed by medications prescribed by a Neurologist. A Cardiologist can help manage heart abnormalities with medications or surgeries. Physical therapy and rehabilitation can help manage skeletal conditions that impair movement and function. Finally, it is important to have a Geneticist who can provide you with resources on how to best manage the disorder, place appropriate referrals to specialists, and possibly provide genetic testing for other family members. Of note, it is advised against the use of aminoglycosides (a class of antibiotics) in patients who are diagnosed with CTU2-associated syndrome