Alpers disease

Alpers disease (also known as Alpers syndrome and Alpers progressive infantile poliodystrophy) is a progressive, neurodevelopmental syndrome caused by mutation of the POLG gene. The mutation leads to depletion of mitochondrial DNA and mitochondrial dysregulation.

This rare disease occurs in about one in 100,000 people. About 80 percent of individuals with Alpers disease develop symptoms in the first two years of life and 20 percent develop symptoms between ages 2 and 25. In addition to liver disease, neurological symptoms may include:

• Infection-associated encephalopathy (a disease that alters brain function or structure)
• Abnormal increase in muscle tone or stiffness (spasticity)
• Involuntary jerking of a muscle or group of muscles (myoclonus)
• Loss of cognitive ability (dementia)
• Seizures that may be difficult to control
• Loss of vision due to damage to the brain's cortex

There is no cure for Alpers disease and no way to slow its progression. Treatment is symptomatic and supportive, such as the use antiseizure drugs and physical therapy to relive spasticity and maintain or increase muscle tone. The prognosis for those with the disease is poor; most individuals die within their first decade of life.

How can I or my loved one help improve care for people with Alpers disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Alpers disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials at Clinicaltrials.gov.

Where can I find more information about Alpers disease?

More information is available from the following resources:

Genetic and Rase Diseases (GARD) Information Center

PubMed

Content source:https://www.ninds.nih.gov/health-information/disorders/alpers-disease. Accessed June 21, 2023.

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