Alpers Disease

Definition

Definition of Alpers Disease
Alpers' disease, also called Alpers' syndrome, progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. Alpers' disease is caused by certain genetic mutations in the POLG gene.

Symptoms

Symptoms of Alpers Disease
The first symptoms of Alpers' disease include seizures and failure to meet proper development. These symptoms usually occur during the first year of an infant's life, but can also appear in children aged 5 years old. Primary symptoms of Alpers' disease include progressive mental retardation, developmental delay, low muscle tone, progressive dementia and limb stiffness that may lead to quadriplegia. When seizures occur, the child may experience epilepsia partialis continua, a seizure consisting of repeated muscle jerks. A few cases of optic atrophy may occur, some even lead to blindness. Others experience deafness. Many patients of Alpers' disease suffer from liver impairment that leads to liver failure. Unfortunately, physical signs of liver problems may not be present.

Causes

Causes of Alpers Disease
Researchers believe that Alpers disease is caused by an underlying metabolic defect that results in high rates of programmed cell death (apoptosis). Some patients have mutations in mitochondrial DNA.

Diagnosis

Diagnosis of Alpers Disease
Diagnosis is established by testing for the POLG gene. Symptoms typically occur months before tissue samples show the mitochondrial DNA depletion, so that these depletion studies cannot be used for early diagnosis.

Treatment

Treatment of Alpers Disease
There is no cure for Alpers' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. However, caution should be used when selecting valproate as therapy since it may increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.

Prognosis

Prognosis of Alpers Disease
The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Liver failure is usually the cause of death, although cardiorespiratory failure may also occur.

Prevention

Prevention of Alpers Disease
Consult with your doctor.