Alpers Disease: A Rare Disorder of the Central Nervous System

Alpers' disease is a rare disorder of the central nervous system, primarily affecting the grey matter of the cerebrum. The disease presents itself in infants and young children. The first sign of Alpers' disease is usually convulsions. A marked physical and mental decline follow. The liver is also severely affected by the disease. Alpers' disease is a progressive disorder. Unfortunately, there is no cure and death eventually results. Some patients with Alpers' disease for several years while others only survive months.

Who gets Alpers' disease?

The exact prevalence of Alpers' disease is not known. It appears to affect less than one in 200,000 individuals. The disorder affects males and females equally. It presents itself early in life, almost always before the age of five. In many cases, Alpers' disease is inherited in an autosomal recessive pattern. This means that carriers have a one in four chance of passing the disease on to their children.

What causes Alpers' disease?

The exact cause of Alpers' disease is not known. It appears to have more than one cause. In most cases, the disease is inherited. The gene that causes the disease has yet to be determined. In other cases, the disease occurs without inheritance and appears to be caused by a metabolic defect. Mutations in mitochondrial DNA have been found.

What are the symptoms of Alpers' disease?

The first symptom of Alpers' disease is almost always sudden, severe seizures. Many children have developmental delays before the initial onset of the disease, however, this is not true in all cases. Other signs and symptoms include low muscle tone, stiffness of the limbs, progressive mental decline, liver problems that eventually result in liver failure, eye problems that eventually result in blindness, deafness, and progressive confusion.

How is Alpers' disease diagnosed?