Alpers disease is a rare genetic disorder that leads to dementia, liver failure and seizures. Symptoms usually start between ages 2 and 4 or ages 17 and 24. They may include muscle stiffness and twitching, lack of growth and migraines. Alpers disease is always fatal, but you can manage symptoms with drugs, therapy, nutrition and breathing devices.
Alpers disease is a rare mitochondrial disease that affects your brain, liver and muscles. Alpers disease leads to:
You can show symptoms of Alpers disease anytime between ages 1 month and 36 years. But symptoms usually start in early childhood, most commonly between ages 2 and 4. Others may develop the disease later, usually between ages 17 and 24. This condition is most often fatal.
Defects in a gene cause Alpers disease, an inherited disorder passed down through families. You have Alpers disease from birth, but people usually don’t notice symptoms for weeks or years.
Other names for Alpers disease include:
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Anyone who inherits defective genes for Alpers disease can get this condition. People of all genders get it in equal numbers.
One out of every 100,000 people has Alpers disease. People with Northern European ancestors have a slightly higher incidence.
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A change (mutation) in a gene (POLG1) causes Alpers disease. Children inherit these gene mutations from both of their parents. Defective POLG1 genes that come from both parents cause Alpers disease.
Alpers disease is a type of mitochondrial disease. The defective genes cause mitochondrial DNA to not work as well. Alpers disease affects your brain, liver and muscles the most since these organs need a large amount of mitochondrial energy to function.
Some researchers think that environmental factors, such as a virus, may cause people who have inherited the defective genes to develop the disease.
Seizures (refractory epilepsy) are usually the first symptom to appear. The other main symptoms are:
Together, providers call these symptoms psychomotor regression.
Other symptoms may include:
As Alpers disease progresses, symptoms may include:
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Healthcare providers usually diagnose Alpers disease by looking for the main symptoms of dementia, liver disease and seizures. Other tests they may use to confirm the diagnosis include:
There are no treatments to slow or stop Alpers disease. But your provider may recommend treatments to help manage symptoms. These treatments can help you feel more comfortable and improve your quality of life. Treatments for symptoms include:
Your provider may suggest tests every few months to monitor your health and change treatments as needed. These tests may include:
They may also suggest other tests depending on how your symptoms progress:
Since Alpers disease is a genetic condition, you can’t reduce your risk.
Alpers disease worsens over time. This condition is usually fatal around four to 10 years after symptoms start.
If you know you have the gene for Alpers disease and are considering a pregnancy, you may want to talk to a genetic counselor. They can provide advice and support.
As the condition progresses, you may need extra support. People that can help you cope with the disease include specialists in:
As Alpers disease becomes worse, home health nurses can help manage care. In the final stages, a palliative care team can provide support.
Support groups for Alpers disease and other mitochondrial diseases can also help you share resources and get advice.
A note from Cleveland Clinic
Alpers disease is a rare genetic disorder that causes seizures, liver disease and reduced mental and physical functioning. Alpers disease usually appears in children ages 2 to 4 or in young adults ages 17 to 24. Though Alpers disease can’t be cured, treatments can help keep you or your child more comfortable as the condition progresses. Caring for someone with Alpers disease can be difficult. Care teams and support groups can assist with both physical and emotional support.
Last reviewed on 11/03/2021.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy