Alpers’ disease is a rare disorder of the central nervous system, primarily affecting the grey matter of the cerebrum. The disease presents itself in infants and young children. The first sign of Alpers’ disease is usually convulsions. A marked physical and mental decline follow. The liver is also severely affected by the disease. Alpers’ disease is a progressive disorder. Unfortunately, there is no cure and death eventually results. Some patients with Alpers’ disease for several years while others only survive months.
Who gets Alpers’ disease?
The exact prevalence of Alpers’ disease is not known. It appears to affect less than one in 200,000 individuals. The disorder affects males and females equally. It presents itself early in life, almost always before the age of five. In many cases, Alpers’ disease is inherited in an autosomal recessive pattern. This means that carriers have a one in four chance of passing the disease on to their children.
What causes Alpers’ disease?
The exact cause of Alpers’ disease is not known. It appears to have more than one cause. In most cases, the disease is inherited. The gene that causes the disease has yet to be determined. In other cases, the disease occurs without inheritance and appears to be caused by a metabolic defect. Mutations in mitochondrial DNA have been found.
What are the symptoms of Alpers’ disease?
The first symptom of Alpers’ disease is almost always sudden, severe seizures. Many children have developmental delays before the initial onset of the disease, however, this is not true in all cases. Other signs and symptoms include low muscle tone, stiffness of the limbs, progressive mental decline, liver problems that eventually result in liver failure, eye problems that eventually result in blindness, deafness, and progressive confusion.
How is Alpers’ disease diagnosed?
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.
How is Alpers’ disease treated?
There is no treatment or cure for Alpers’ disease. There is also no way to slow the progression of the disease. Treatment is aimed at treating the symptoms and making the patient as comfortable as possible. Anticonvulsants, pain relievers, and sedatives are often used. Physical therapy may also help to minimize discomfort.
What is the prognosis of those with Alpers’ disease?
The prognosis of those with Alpers’ disease is poor. In rare cases where the disease doesn’t present itself until later in life, progression tends to be less rapid. Those individuals may live for decades. However, on average, individuals die within one year of the onset of symptoms. Doctors believe that patients have little or no pain and are not aware of what is going on. Therefore, they have a relatively painless and peaceful passing. Hopefully future research will pinpoint the cause of Alpers’ disease, thus aiding in finding a cure and/or treatment.
Sources
Wikipedia
Healthline
