Alpers' disease
Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome,
Clinical features
It is characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease. It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG.
Incidence
The disease occurs in about one in 100,000 persons.
Symptoms
Most individuals with Alpers' disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.
Diagnosis
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. About 80 percent of individuals with Alpers' disease develop symptoms in the first two years of life, and 20 percent develop symptoms between ages 2 and 25.
Prognosis
The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur.
Treatment
There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive.
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External links
- Comprehensive information from the National Institute of health.
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Contributors: Prab R. Tumpati, MD
