Alpers disease


Alpers disease

Description, Causes and Risk Factors:

Autosomal recessively inherited progressive spastic paresis (partial or incomplete paralysis) of extremities with progressive mental deterioration, with development of seizures, blindness, and deafness, beginning during the first year of life, and with destruction and disorganization of nerve cells of the cerebral cortex.

Alpers disease

Alpers disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome 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. The disease occurs in about one in 100,000 persons. Most individuals with Alpers disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.

It is believed to be caused by a biochemical fault that leads to damage and loss of cells in the grey matter of the brain. This damage causes difficulties in passing messages (nerve signals) within the brain and from the brain to other parts of the body. There is a very rare form of Alpers disease that occurs in older children and teenagers. The course of Juvenile Alpers Disease is extended over a longer period of time.

Alpers Disease is passed down by an autosomal recessive mode of inheritance. However, it is likely that in some cases different patterns of inheritance may occur. Many patients have an underlying mitochondrial disorder and recent evidence shows that a number of patients have defects in the POLG1 gene.

The prognosis for individuals with Alpers' disease is poor. Several clinics and associations are supporting research into neurodegenerative disorders to better understand the disorders which will lead to better cures and treatments.

Symptoms:

    The first symptoms of the disorder are usually nonspecific and may include hypoglycemia secondary to underlying liver disease.

  • Failure to thrive.

  • Infection-associated encephalopathy.

  • Spasticity.

  • Myoclonus (involuntary jerking of a muscle or group of muscles).

  • Seizures.

  • Liver failure.

  • Cortical blindness (loss of vision due to damage to the area of the cortex that controls vision, develops in about 25 percent of cases).

  • Gastrointestinal dysfunction and cardiomyopathy may occur.

  • Dementia is typically episodic and often associated with an infection that occurs while another disease is in process.

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. An increased protein level is seen in cerebrospinal fluid analysis.

Treatment:

There is no cure for Alpers disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what could be excessive sedation from the anticonvulsant. Valproate should not be used since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.

Seizures may be difficult to control and unrelenting seizures can cause developmental regression as well. "Alpers-like" disorders without liver disease are genetically different and have a different clinical course.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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