What is Alpers' Disease?

Alpers' disease is a very rare disorder that is characterized by progressive damage and loss, or degeneration, of cells in the brain and severe problems with the liver, eventually leading to death. It's also known as progressive sclerosing poliodystrophy, and progressive neuronal degeneration of childhood. It is a hereditary disease affecting children with onset of symptoms before age five. Symptoms include seizures, loss of muscular control, dementia, and liver failure. There is no cure for Alpers' disease; treatment focuses on easing the symptoms.

It's estimated that Alpers' disease afflicts less than 1 in 200,000 children; it's hard to get an accurate number, however, due to difficulties diagnosing the disorder. It is carried on one of the genes as a recessive trait, so both parents have to be carriers to pass it on to their child. The exact mechanism of the disorder is unknown, but it's thought to be a metabolic defect that affects the functioning of mitochondria in the cells leaving them unable to produce energy for the tissues. Without this needed energy, the cells of the grey matter in the cerebrum are damaged and die, causing problems throughout the body.

Children afflicted with Alpers' disease typically show the first symptoms between the ages of three months and five years. Usually the first signs of a problem are seizures, stiffness of the limbs, and abnormal muscle tone called hypotonicity. These indicators are often followed by failure to reach cognitive and developmental milestones and loss of skills and abilities that were already present.

Alpers' disease is a progressive disorder, meaning it continuously increases in severity. From the beginning signs children continue to lose functioning, eventually becoming unable to control their muscles, communicate, or process information. They frequently develop dementia and lose all cognitive function. They can develop blindness from a condition called optic atrophy which is the degeneration of the optic nerve until it is no longer functional. Usually liver disease develops and the patients experience jaundice and eventual liver failure.

The deterioration usually progresses quickly, leading to eventual death when the body and brain are no longer able to function. From the onset of symptoms, patients can die within a year. Death is often caused by the uncontrollable seizures, liver failure, or cardio-respiratory failure. Patients with Alpers' disease rarely survive past ten years old.

Because of the fatal nature of Alpers' disease, treatment focuses on maintaining functioning and comfort as long as possible. At present, there is no way to slow the progress of the disease, but measures can be taken to keep patients as comfortable as possible. Treatments can include physical therapy and anti-convulsant medications.