Management

Currently, there is no known cure for ISCA2-related disorders. Treatment is mainly supportive and aimed toward the manifestations, and symptom management. Additional supportive care are recommended and can be managed by the appropriate specialty. Moreover, input from a geneticist, neurologist, dietician, and developmental specialist can be useful. A feeding tube (nasogastric or gastrostomy) is required and a standard treatment for epilepsy may be useful. Recurrent chest infections may require ventilator support in addition to antimicrobial therapy. Referral to early intervention services is recommended. For muscle tone abnormalities including hypertonia, baclofen and/or Botox may be considered.