Alpers disease
- Article
- 2021-03-02
Alpers disease is a progressive neurological mitochondrial DNA depletion syndrome characterized by three concurrent clinical symptoms: psychomotor regression (dementia); to attack; and liver disease. It is an autosomal recessive disease caused by a mutation in the gene for the mitochondrial DNA polymerase POLG. The disease affects about one in 100,000 people. Most people with Alpers disease do not show symptoms at birth and normally develop weeks to years before symptoms appear. Diagnosis is made by testing for the POLG gene. Symptoms usually occur months before tissue samples show mitochondrial DNA depletion, so these exhaustion studies cannot be used for early diagnosis. About 80 percent of people with Alpers disease develop symptoms in the first two years of life, and 20 percent develop symptoms between the ages of 2 and 25. to thrive, infection-associated encephalopathy, spasticity, myoclonus (involuntary jerking of a muscle or muscle group), seizures, or liver failure. An increased protein level is seen in cerebrospinal fluid analysis. Cortical blindness (vision loss due to damage to the area of the cortex that controls vision) develops in about 25 percent of cases. Gastrointestinal dysfunction and cardiomyopathy can occur. Dementia is typically episodic and is often associated with an infection that occurs while another disease is ongoing. Seizures can be difficult to control and relentless seizures can also cause developmental regression. "Alpers-like" conditions without liver disease are genetically different and have a different clinical course. Less than a third of people with the "Alpers-like" phenotype without liver disease have Cortical blindness (loss of vision due to damage to the area of the cortex that controls vision) in about 25 percent of cases. . Gastrointestinal dysfunction and cardiomyopathy can occur. Dementia is typically episodic and is often associated with an infection that occurs while another disease is ongoing. Seizures can be difficult to control and relentless seizures can also cause developmental regression. "Alpers-like" conditions without liver disease are genetically different and have a different clinical course. Less than a third of people with the "Alpers-like" phenotype without liver disease have Cortical blindness (loss of vision due to damage to the area of the cortex that controls vision) in about 25 percent of cases. . Gastrointestinal dysfunction and cardiomyopathy can occur. Dementia is typically episodic and is often associated with an infection that occurs while another disease is ongoing. Seizures can be difficult to control and relentless seizures can also cause developmental regression. "Alpers-like" conditions without liver disease are genetically different and have a different clinical course. Less than a third of people with the "Alpers-like" phenotype without liver disease have Dementia is typically episodic and is often associated with an infection that occurs while another disease is ongoing. Seizures can be difficult to control and relentless seizures can also cause developmental regression. "Alpers-like" conditions without liver disease are genetically distinct and have a different clinical course. Less than a third of people with the "Alpers-like" phenotype without liver disease have Dementia is typically episodic and is often associated with an infection that occurs while another disease is ongoing. Seizures can be difficult to control and relentless seizures can also cause developmental regression. "Alpers-like" conditions without liver disease are genetically different and have a different clinical course. Less than a third of people with the "Alpers-like" phenotype without liver disease have POLG mutations.
Therapy
There is no cure for Alpers disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants can be used to treat the seizures, but sometimes the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of the control would be van attack against what could be excessive sedation by the anticonvulsant. Valproate should not be used because it can increase the risk of liver failure. Physical therapy can help relieve spasticity and maintain or increase muscle tone.
Prognosis
The prognosis for individuals with Alpers disease is poor. Those with the disease usually die within their first decade of life. Persistent, relentless attacks often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement can also occur.
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