Systems AffectedA progressive neurological disorder, caused by mitochondrial DNA depletion syndrome and characterized by dementia, seizures, and liver disease. Caused by a mutation in the mitochondrial DNA polymerase POLG. Normally, no symptoms are present at birth, but they reveal themselves throughout the first two years of life, and continue to about twenty five. The exact cause is still not known.
Symptoms
DiagnosisDiagnosis for Alper's disease is poor. It is usually diagnosed during infancy based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests.
Such tests may include specialized imaging studies of the brain, which may reveal degeneration of the outer portion (cerebral cortex) and, in some cases, other areas of the brain. Electroencephalography (EEG), which records the brain's electrical impulses, may reveal an overall slowing of the brain's electrical activity and/or other electrical discharge abnormalities characteristic of seizure activity. Only post mortem confirmation is possible by means of a brain biopsy.
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TreatmentsThere is no cure for Alper's disease and no way to slow it down. Alleviation is symptomatic and supportive. Anti-convulsants may be used to treat seizures, but usually it does not respond well to this therapy. Physical therapy can be used to help with weak muscle tone. Other therapies are still being investigated.
Life ExpectancyPatients tend to die up to a year after diagnosis. Patients usually die within first decade of life due to continuous, unrelenting seizures. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur.
Case StudyAn Eighteen month old boy with Alper's Disease.
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