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What is Alpers' Disease?

Article Summary: Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. The first sign of the disease usually begins early in life with convulsions

Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. The first sign of the disease usually begins early in life with convulsions. Other symptoms are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs), dementia, and liver conditions such as jaundice and cirrhosis that can lead to liver failure. Optic atrophy may also occur, often causing blindness. Some patients have mutations in mitochondrial DNA. Researchers suspect that Alpers' disease is sometimes misdiagnosed as childhood jaundice or liver failure, since the only method of making a definitive diagnosis is by autopsy or brain biopsy after death.

Alpers disease is due to more than one cause. Some cases are inherited as autosomal recessive traits with both parents appearing normal but carrying one Alpers gene and each of their children, boys and girls alike, standing a 1 in 4 risk of receiving both of the parental Alpers genes and of suffering from this dread disease. Sign of the disease usually begins early in life with convulsions. Other symptoms are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs), dementia, and liver conditions such as jaundice and cirrhosis that can lead to liver failure

First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness.

The exact cause is unknown but we believe it is due to a biochemical fault which causes damage to, and loss of, cells in the grey matter of the brain. The progressive damage to the brain causes epilepsy and increasing physical and mental problems. This is because of increasing blockages in the messages within the brain and from the brain to other parts of the body.

Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).

Children with Alpers' disease usually develop symptoms between the ages of three months and five years old. Initially, the first symptom early in life is seizures (convulsions). These children tend to be hypotonic (unable to achieve normal muscle tone) and their limbs seem to be stiff. This is usually followed by the failure to reach cognitive and developmental milestones. Mental retardation is progressive in these children.

Diagnosis of Alpers' disease can be extremely difficult. There is no "test" for the condition nor is there any conclusive way to determine if the disease is present or not. If Alpers' disease is suspected, the doctor will do a physical examination and review the patient's medical history. The signs and symptoms present are often the only way to diagnosis the disease, however, an electroencephalogram (EEG) may aid in diagnosis. Rarely, a liver biopsy may be performed. Alpers' disease is frequently misdiagnosed. Unfortunately, in most cases the diagnosis is not made until an autopsy is performed.

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Peter Hutch
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