Alpers Syndrome

What is Alpers Syndrome?

Alpers disease is a neurologic syndrome characterized by a lack of coordination in motor movement and seizures. It is a progressive disease, which means that it gets worse as time goes on, and is often further complicated by severe liver disease. Alpers disease begins during early childhood. The most common first indication of it is the occurrence of seizures between 3 months and 5 years of age. It affects males and females equally.

What are the symptoms of Alpers Syndrome?

Symptoms include:

• Seizures
• Decreased muscle tone
• Liver disease/damage
• Stiff limbs
• Muscle twitching
• Partial paralysis
• Progressive mental retardation
• Dementia
• Infections
• In later stages, loss of control of movement in arms and legs
• Liver failure
• Blindness

What causes Alpers Syndrome?

Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. Alpers disease is inherited in an autosomal recessive pattern, which means that both parents need to pass down a copy of the mutated gene for the condition to occur. It is caused by mutations in the POLG gene.

How is Alpers Syndrome diagnosed?

Alpers disease is diagnosed using the following procedures:

• Thorough clinical evaluation
• Recording of patient history
• Specialized tests of the brain that may reveal: increased density of gray matter in the brain; degeneration of the outer portion of the brain; or an overall slowing of the brain’s electrical activity
• Genetic testing

What are the treatments for Alpers Syndrome?

Treatment for Alpers disease is supportive and works to treat specific symptoms. It includes:

• Anticonvulsants to treat seizures
• Physical therapy
• Drugs to treat muscle spasms and joint pain
• Drugs to treat infection
• Massage

Where can I find out more about Alpers Syndrome?

• National Organization for Rare Disorders (NORD)
• NIH