Alpers Disease

What is Alpers disease?

Alpers disease is a rare mitochondrial disease that affects your brain, liver and muscles. Alpers disease leads to:

• Dementia.
• Liver failure.
• Seizures.

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:

• Alpers-Huttenlocher syndrome.
• Alpers syndrome.
• Diffuse cerebral degeneration in infancy.
• Progressive cerebral poliodystrophy.
• Progressive infantile poliodystrophy.

Who might get Alpers disease?

Anyone who inherits defective genes for Alpers disease can get this condition. People of all genders get it in equal numbers.

How common is Alpers disease?

One out of every 100,000 people has Alpers disease. People with Northern European ancestors have a slightly higher incidence.

What causes Alpers disease?

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.

What are the symptoms of Alpers disease?

Seizures (refractory epilepsy) are usually the first symptom to appear. The other main symptoms are:

• Liver disease.
• Slowing down of thinking (mild cognitive impairment) and lessening of movements.

Together, providers call these symptoms psychomotor regression.

Other symptoms may include:

• Anxiety and depression.
• Brain disease (encephalopathy).
• Hypoglycemia (low blood sugar).
• Lack of growth (failure to thrive).
• Migraine headaches with hallucinations.
• Muscle stiffness (spasticity).
• Muscle twitching.

As Alpers disease progresses, symptoms may include:

• Blindness resulting from optic atrophy.
• Difficulty swallowing (dysphagia).
• Dementia.
• Diseases of your heart muscle (cardiomyopathy).
• Diseases that affect movement and coordination (ataxia).
• Gastrointestinal diseases.
• Loss of control of arms and legs (spastic quadriplegia, a type of cerebral palsy).
• Liver cirrhosis or liver failure.

How is Alpers disease diagnosed?

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:

• Cerebrospinal fluid analysis: Your provider collects fluid from your lower back with a spinal tap. They test the fluid for cerebral folate deficiency.
• Electroencephalography (EEG): Your provider uses EEG to measure your brain’s electrical signals. They place metal disks (electrodes) on your scalp to look at your brain activity. An EEG may show a slowing of activity if you have Alpers disease.
• Genetic testing: Your provider will take a blood sample. They use this sample to examine the building blocks (sequence) of your genes for mutations.
• Magnetic resonance imaging (MRI): MRI of your brain will show an increased mass of grey matter with Alpers disease.

How is Alpers disease treated?

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:

• Anticonvulsant medications, to help lessen seizures.
• Feeding tube (percutaneous endoscopic gastrostomy), to help with nutrition and hydration.
• Frequent, small, low-protein meals.
• Massage, to reduce stress.
• Occupational therapy, to help you learn to perform daily tasks.
• Pain relievers and muscle relaxants.
• Physical therapy, to treat spasticity and improve muscle tone.
• Speech therapy.
• Supportive ventilation, such as continuous positive airway pressure (CPAP), bilevel positive airway pressure (often known under the trade name BiPAP®) or tracheostomy, to improve breathing.

Your provider may suggest tests every few months to monitor your health and change treatments as needed. These tests may include:

• Complete blood count (CBC).
• Electrolyte monitoring.
• Elevated liver enzymes test.
• Liver function test.

They may also suggest other tests depending on how your symptoms progress:

• Brainstorm Auditory Evoke Potential.
• EEG.
• Pulmonary function testing.
• Sleep disorder testing (polysomnography).
• Swallowing evaluation.
• Vascular ultrasound of the liver.

How can I reduce my risk of Alpers disease?

Since Alpers disease is a genetic condition, you can’t reduce your risk.

What can I expect if I have (or my child has) Alpers disease?

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.

How do I take care of myself or my child?

As the condition progresses, you may need extra support. People that can help you cope with the disease include specialists in:

• Gastrointestinal issues.
• Nutrition.
• Psychiatry.

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.