Alpers’ Disease (Progressive Sclerosing Poliodystrophy)

About Alpers’ disease

Alpers’ disease is a disorder that is determined by genetics. It is a rare neurological disease that causes continuous deterioration of the cerebrum’s grey matter.

What are the symptoms of Alpers’ disease?

  • Convulsions (these usually begin early in life and are one of the first symptoms of the disorder)
  • Developmental delays
  • Progressive mental handicap
  • Optic atrophy, which can cause blindness
  • Reduced muscle tone (referred to as hypotonia)
  • Limb stiffness
  • Liver conditions including jaundice and cirrhosis (which sometimes results in liver failure)
  • Dementia

What is the prognosis for Alpers’ disease?

People with Alpers’ disease generally die during the first 10 years of their life. Death is often caused by unrelenting, constant seizures, although cardiorespiratory and liver failure may also take place as a result of the disease.

What causes Alpers’ disease?

It is believed by researchers that Alpers’ disease is caused by an underlying metabolic defect, as mutations in mitochondrial DNA are found in some patients with the disorder. Researchers deduce that Alpers’ disease is sometimes misdiagnosed as liver failure or childhood jaundice, because the only way a definitive diagnosis can be carried out is by brain biopsy or autopsy.

How is Alpers’ disease treated?

There isn’t a cure for Alpers’ disease, nor is there a way to slow down its onset or progression. Any treatment for Alpers’ disease is supportive and symptomatic.

The seizures may be treated with the use of anticonvulsants. Some anticonvulsants, such as Valproate, must be used very carefully because it can enhance liver failure.

It may be helpful for the patient to have physical therapy to relieve stiffness of the limbs and increase the muscle tone.
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