First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy. Optic atrophy may also occur, often leading to blindness. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. While some researchers believe that Alpers' disease is caused by an underlying metabolic defect, no consistent defect has been identified. There is no cure for Alpers' disease and, currently, no way to slow its progression.
Treatment is symptomatic and supportive.
Anticonvulsants may be used to treat the seizures. However, caution should be used when selecting valproate as therapy since it may increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone. The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life.